The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The genetic complement of a BACTERIA as represented in its DNA.
The complete genetic complement contained in a DNA or RNA molecule in a virus.
The genetic complement of a plant (PLANTS) as represented in its DNA.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The genetic complement of MITOCHONDRIA as represented in their DNA.
The complete gene complement contained in a set of chromosomes in a fungus.
The amount of DNA (or RNA) in one copy of a genome.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The genetic complement of an archaeal organism (ARCHAEA) as represented in its DNA.
The relationships of groups of organisms as reflected by their genetic makeup.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The genetic complement of an insect (INSECTS) as represented in its DNA.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The complete genetic complement contained in a set of CHROMOSOMES in a protozoan.
The systematic study of the complete DNA sequences (GENOME) of organisms.
The genetic complement of CHLOROPLASTS as represented in their DNA.
Any method used for determining the location of and relative distances between genes on a chromosome.
The genetic complement of a helminth (HELMINTHS) as represented in its DNA.
A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).
The genetic complement of PLASTIDS as represented in their DNA.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example.
A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.
Deoxyribonucleic acid that makes up the genetic material of viruses.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequential location of genes on a chromosome.
A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.
Genotypic differences observed among individuals in a population.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Databases devoted to knowledge about specific genes and gene products.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
Ribonucleic acid that makes up the genetic material of viruses.
The functional hereditary units of VIRUSES.
Sequential operating programs and data which instruct the functioning of a digital computer.
The addition of descriptive information about the function or structure of a molecular sequence to its MOLECULAR SEQUENCE DATA record.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
The relative amounts of the PURINES and PYRIMIDINES in a nucleic acid.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.
Deoxyribonucleic acid that makes up the genetic material of plants.
Proteins found in any species of virus.
The naturally occurring transmission of genetic information between organisms, related or unrelated, circumventing parent-to-offspring transmission. Horizontal gene transfer may occur via a variety of naturally occurring processes such as GENETIC CONJUGATION; GENETIC TRANSDUCTION; and TRANSFECTION. It may result in a change of the recipient organism's genetic composition (TRANSFORMATION, GENETIC).
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Elements that are transcribed into RNA, reverse-transcribed into DNA and then inserted into a new site in the genome. Long terminal repeats (LTRs) similar to those from retroviruses are contained in retrotransposons and retrovirus-like elements. Retroposons, such as LONG INTERSPERSED NUCLEOTIDE ELEMENTS and SHORT INTERSPERSED NUCLEOTIDE ELEMENTS do not contain LTRs.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.
Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes.
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
The functional hereditary units of BACTERIA.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
The functional hereditary units of PLANTS.
The genetic complement of a microorganism as represented in its DNA or in some microorganisms its RNA.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
The parts of a GENOME sequence that are involved with the different functions or properties of genomes as a whole as opposed to those of individual GENES.
Established cell cultures that have the potential to propagate indefinitely.
The degree of similarity between sequences. Studies of AMINO ACID SEQUENCE HOMOLOGY and NUCLEIC ACID SEQUENCE HOMOLOGY provide useful information about the genetic relatedness of genes, gene products, and species.
Annual cereal grass of the family POACEAE and its edible starchy grain, rice, which is the staple food of roughly one-half of the world's population.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Proteins found in any species of bacterium.
Any of the DNA in between gene-coding DNA, including untranslated regions, 5' and 3' flanking regions, INTRONS, non-functional pseudogenes, and non-functional repetitive sequences. This DNA may or may not encode regulatory functions.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
The process by which a DNA molecule is duplicated.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
Viruses whose hosts are bacterial cells.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
Nucleotide sequences repeated on both the 5' and 3' ends of a sequence under consideration. For example, the hallmarks of a transposon are that it is flanked by inverted repeats on each end and the inverted repeats are flanked by direct repeats. The Delta element of Ty retrotransposons and LTRs (long terminal repeats) are examples of this concept.
The portion of an interactive computer program that issues messages to and receives commands from a user.
Genomes of temperate BACTERIOPHAGES integrated into the DNA of their bacterial host cell. The prophages can be duplicated for many cell generations until some stimulus induces its activation and virulence.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Genes that are located on the MITOCHONDRIAL DNA. Mitochondrial inheritance is often referred to as maternal inheritance but should be differentiated from maternal inheritance that is transmitted chromosomally.
Deoxyribonucleic acid that makes up the genetic material of CHLOROPLASTS.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.
The small RNA molecules, 73-80 nucleotides long, that function during translation (TRANSLATION, GENETIC) to align AMINO ACIDS at the RIBOSOMES in a sequence determined by the mRNA (RNA, MESSENGER). There are about 30 different transfer RNAs. Each recognizes a specific CODON set on the mRNA through its own ANTICODON and as aminoacyl tRNAs (RNA, TRANSFER, AMINO ACYL), each carries a specific amino acid to the ribosome to add to the elongating peptide chains.
Animals having a vertebral column, members of the phylum Chordata, subphylum Craniata comprising mammals, birds, reptiles, amphibians, and fishes.
Cells lacking a nuclear membrane so that the nuclear material is either scattered in the cytoplasm or collected in a nucleoid region.
The relationship between two different species of organisms that are interdependent; each gains benefits from the other or a relationship between different species where both of the organisms in question benefit from the presence of the other.
A multistage process that includes cloning, physical mapping, subcloning, sequencing, and information analysis of an RNA SEQUENCE.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
Copies of transposable elements interspersed throughout the genome, some of which are still active and often referred to as "jumping genes". There are two classes of interspersed repetitive elements. Class I elements (or RETROELEMENTS - such as retrotransposons, retroviruses, LONG INTERSPERSED NUCLEOTIDE ELEMENTS and SHORT INTERSPERSED NUCLEOTIDE ELEMENTS) transpose via reverse transcription of an RNA intermediate. Class II elements (or DNA TRANSPOSABLE ELEMENTS - such as transposons, Tn elements, insertion sequence elements and mobile gene cassettes of bacterial integrons) transpose directly from one site in the DNA to another.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Multicellular, eukaryotic life forms of kingdom Plantae (sensu lato), comprising the VIRIDIPLANTAE; RHODOPHYTA; and GLAUCOPHYTA; all of which acquired chloroplasts by direct endosymbiosis of CYANOBACTERIA. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (MERISTEMS); cellulose within cells providing rigidity; the absence of organs of locomotion; absence of nervous and sensory systems; and an alternation of haploid and diploid generations.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.
Copies of nucleic acid sequence that are arranged in opposing orientation. They may lie adjacent to each other (tandem) or be separated by some sequence that is not part of the repeat (hyphenated). They may be true palindromic repeats, i.e. read the same backwards as forward, or complementary which reads as the base complement in the opposite orientation. Complementary inverted repeats have the potential to form hairpin loop or stem-loop structures which results in cruciform structures (such as CRUCIFORM DNA) when the complementary inverted repeats occur in double stranded regions.
Viruses whose genetic material is RNA.
Self-replicating cytoplasmic organelles of plant and algal cells that contain pigments and may synthesize and accumulate various substances. PLASTID GENOMES are used in phylogenetic studies.
Insertion of viral DNA into host-cell DNA. This includes integration of phage DNA into bacterial DNA; (LYSOGENY); to form a PROPHAGE or integration of retroviral DNA into cellular DNA to form a PROVIRUS.
One of the three domains of life (the others being Eukarya and ARCHAEA), also called Eubacteria. They are unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. Bacteria can be classified by their response to OXYGEN: aerobic, anaerobic, or facultatively anaerobic; by the mode by which they obtain their energy: chemotrophy (via chemical reaction) or PHOTOTROPHY (via light reaction); for chemotrophs by their source of chemical energy: CHEMOLITHOTROPHY (from inorganic compounds) or chemoorganotrophy (from organic compounds); and by their source for CARBON; NITROGEN; etc.; HETEROTROPHY (from organic sources) or AUTOTROPHY (from CARBON DIOXIDE). They can also be classified by whether or not they stain (based on the structure of their CELL WALLS) with CRYSTAL VIOLET dye: gram-negative or gram-positive.
The functional genetic units of ARCHAEA.
A plant genus of the family POACEAE. The grain is used for FOOD and for ANIMAL FEED. This should not be confused with KAFFIR LIME or with KEFIR milk product.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.
Any of the processes by which cytoplasmic factors influence the differential control of gene action in viruses.
Any of the covalently closed DNA molecules found in bacteria, many viruses, mitochondria, plastids, and plasmids. Small, polydisperse circular DNA's have also been observed in a number of eukaryotic organisms and are suggested to have homology with chromosomal DNA and the capacity to be inserted into, and excised from, chromosomal DNA. It is a fragment of DNA formed by a process of looping out and deletion, containing a constant region of the mu heavy chain and the 3'-part of the mu switch region. Circular DNA is a normal product of rearrangement among gene segments encoding the variable regions of immunoglobulin light and heavy chains, as well as the T-cell receptor. (Riger et al., Glossary of Genetics, 5th ed & Segen, Dictionary of Modern Medicine, 1992)
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Highly repeated sequences, 100-300 bases long, which contain RNA polymerase III promoters. The primate Alu (ALU ELEMENTS) and the rodent B1 SINEs are derived from 7SL RNA, the RNA component of the signal recognition particle. Most other SINEs are derived from tRNAs including the MIRs (mammalian-wide interspersed repeats).
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc.
Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane.
Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.
A nucleic acid sequence that contains an above average number of GUANINE and CYTOSINE bases.
Warm-blooded vertebrate animals belonging to the class Mammalia, including all that possess hair and suckle their young.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Highly repeated sequences, 6K-8K base pairs in length, which contain RNA polymerase II promoters. They also have an open reading frame that is related to the reverse transcriptase of retroviruses but they do not contain LTRs (long terminal repeats). Copies of the LINE 1 (L1) family form about 15% of the human genome. The jockey elements of Drosophila are LINEs.
The pattern of GENE EXPRESSION at the level of genetic transcription in a specific organism or under specific circumstances in specific cells.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The common chimpanzee, a species of the genus Pan, family HOMINIDAE. It lives in Africa, primarily in the tropical rainforests. There are a number of recognized subspecies.
One of the three domains of life (the others being BACTERIA and ARCHAEA), also called Eukarya. These are organisms whose cells are enclosed in membranes and possess a nucleus. They comprise almost all multicellular and many unicellular organisms, and are traditionally divided into groups (sometimes called kingdoms) including ANIMALS; PLANTS; FUNGI; and various algae and other taxa that were previously part of the old kingdom Protista.
One of the three domains of life (the others being BACTERIA and Eukarya), formerly called Archaebacteria under the taxon Bacteria, but now considered separate and distinct. They are characterized by: (1) the presence of characteristic tRNAs and ribosomal RNAs; (2) the absence of peptidoglycan cell walls; (3) the presence of ether-linked lipids built from branched-chain subunits; and (4) their occurrence in unusual habitats. While archaea resemble bacteria in morphology and genomic organization, they resemble eukarya in their method of genomic replication. The domain contains at least four kingdoms: CRENARCHAEOTA; EURYARCHAEOTA; NANOARCHAEOTA; and KORARCHAEOTA.
Genetic loci associated with a QUANTITATIVE TRAIT.
Two identical genes showing the same phenotypic action but localized in different regions of a chromosome or on different chromosomes. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Members of the group of vascular plants which bear flowers. They are differentiated from GYMNOSPERMS by their production of seeds within a closed chamber (OVARY, PLANT). The Angiosperms division is composed of two classes, the monocotyledons (Liliopsida) and dicotyledons (Magnoliopsida). Angiosperms represent approximately 80% of all known living plants.
Deletion of sequences of nucleic acids from the genetic material of an individual.
The outer protein protective shell of a virus, which protects the viral nucleic acid.
A small order of primarily marine fish containing 340 species. Most have a rotund or box-like shape. TETRODOTOXIN is found in their liver and ovaries.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.
Viruses which lack a complete genome so that they cannot completely replicate or cannot form a protein coat. Some are host-dependent defectives, meaning they can replicate only in cell systems which provide the particular genetic function which they lack. Others, called SATELLITE VIRUSES, are able to replicate only when their genetic defect is complemented by a helper virus.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
The parts of the messenger RNA sequence that do not code for product, i.e. the 5' UNTRANSLATED REGIONS and 3' UNTRANSLATED REGIONS.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.
Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).
The protein complement of an organism coded for by its genome.
Distinct units in some bacterial, bacteriophage or plasmid GENOMES that are types of MOBILE GENETIC ELEMENTS. Encoded in them are a variety of fitness conferring genes, such as VIRULENCE FACTORS (in "pathogenicity islands or islets"), ANTIBIOTIC RESISTANCE genes, or genes required for SYMBIOSIS (in "symbiosis islands or islets"). They range in size from 10 - 500 kilobases, and their GC CONTENT and CODON usage differ from the rest of the genome. They typically contain an INTEGRASE gene, although in some cases this gene has been deleted resulting in "anchored genomic islands".
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Deoxyribonucleic acid that makes up the genetic material of fungi.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Diseases of plants.
Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.
A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.
A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regulating sequences.
The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
Deoxyribonucleic acid that makes up the genetic material of algae.
Genes whose nucleotide sequences overlap to some degree. The overlapped sequences may involve structural or regulatory genes of eukaryotic or prokaryotic cells.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
Retroviruses that have integrated into the germline (PROVIRUSES) that have lost infectious capability but retained the capability to transpose.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
The process of pictorial communication, between human and computers, in which the computer input and output have the form of charts, drawings, or other appropriate pictorial representation.
A family of BACTERIOPHAGES and ARCHAEAL VIRUSES which are characterized by long, non-contractile tails.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.

Analysis of genomic integrity and p53-dependent G1 checkpoint in telomerase-induced extended-life-span human fibroblasts. (1/8470)

Life span determination in normal human cells may be regulated by nucleoprotein structures called telomeres, the physical ends of eukaryotic chromosomes. Telomeres have been shown to be essential for chromosome stability and function and to shorten with each cell division in normal human cells in culture and with age in vivo. Reversal of telomere shortening by the forced expression of telomerase in normal cells has been shown to elongate telomeres and extend the replicative life span (H. Vaziri and S. Benchimol, Curr. Biol. 8:279-282, 1998; A. G. Bodnar et al., Science 279:349-352, 1998). Extension of the life span as a consequence of the functional inactivation of p53 is frequently associated with loss of genomic stability. Analysis of telomerase-induced extended-life-span fibroblast (TIELF) cells by G banding and spectral karyotyping indicated that forced extension of the life span by telomerase led to the transient formation of aberrant structures, which were subsequently resolved in higher passages. However, the p53-dependent G1 checkpoint was intact as assessed by functional activation of p53 protein in response to ionizing radiation and subsequent p53-mediated induction of p21(Waf1/Cip1/Sdi1). TIELF cells were not tumorigenic and had a normal DNA strand break rejoining activity and normal radiosensitivity in response to ionizing radiation.  (+info)

An effective approach for analyzing "prefinished" genomic sequence data. (2/8470)

Ongoing efforts to sequence the human genome are already generating large amounts of data, with substantial increases anticipated over the next few years. In most cases, a shotgun sequencing strategy is being used, which rapidly yields most of the primary sequence in incompletely assembled sequence contigs ("prefinished" sequence) and more slowly produces the final, completely assembled sequence ("finished" sequence). Thus, in general, prefinished sequence is produced in excess of finished sequence, and this trend is certain to continue and even accelerate over the next few years. Even at a prefinished stage, genomic sequence represents a rich source of important biological information that is of great interest to many investigators. However, analyzing such data is a challenging and daunting task, both because of its sheer volume and because it can change on a day-by-day basis. To facilitate the discovery and characterization of genes and other important elements within prefinished sequence, we have developed an analytical strategy and system that uses readily available software tools in new combinations. Implementation of this strategy for the analysis of prefinished sequence data from human chromosome 7 has demonstrated that this is a convenient, inexpensive, and extensible solution to the problem of analyzing the large amounts of preliminary data being produced by large-scale sequencing efforts. Our approach is accessible to any investigator who wishes to assimilate additional information about particular sequence data en route to developing richer annotations of a finished sequence.  (+info)

High polymorphism level of genomic sequences flanking insertion sites of human endogenous retroviral long terminal repeats. (3/8470)

The polymorphism at the multitude of loci adjacent to human endogenous retrovirus long terminal repeats (LTRs) was analyzed by a technique for whole genome differential display based on the PCR suppression effect that provides selective amplification and display of genomic sequences flanking interspersed repeated elements. This strategy is simple, target-specific, requires a small amount of DNA and provides reproducible and highly informative data. The average frequency of polymorphism observed in the vicinity of the LTR insertion sites was found to be about 12%. The high incidence of polymorphism within the LTR flanks together with the frequent location of LTRs near genes makes the LTR loci a useful source of polymorphic markers for gene mapping.  (+info)

Search for retroviral related DNA polymorphisms using RAPD PCR in schizophrenia. (4/8470)

Random amplification of polymorphic DNA (RAPD) is widely used to detect polymorphisms in many organisms. Individual (or strain) specific amplified bands are generated with single or pairs of primers in PCR reactions and can serve as genetic markers. We have used this method to generate a large number of reproducible bands with single primers, random and retroviral related, on 92 human DNA samples. Theoretically, RAPD PCR presents a logical approach for assessing variability among individuals. We used ten retroviral related primers (12, 20 and 22 bp) and eight random primers (10 bp) to assess individual differences in the context of testing the retroviral hypothesis for schizophrenia. Three pairs of discordant monozygotic twins, four pairs of discordant full sibs and 53 schizophrenic individuals with 25 of their unrelated matched controls were analyzed. Ten of these primers resulted in a total of approx. 850 amplified bands (65-110 bands per primer). Almost all of these bands were identical among each individual analyzed. However, the results are inconclusive with respect to the retroviral hypothesis for schizophrenia. The general lack of RAPD polymorphism in this study may argue for mechanisms other than rearrangements such as inversions, associated with the evolution of the human genome.  (+info)

Identification of a novel activation-inducible protein of the tumor necrosis factor receptor superfamily and its ligand. (5/8470)

Among members of the tumor necrosis factor receptor (TNFR) superfamily, 4-1BB, CD27, and glucocorticoid-induced tumor necrosis factor receptor family-related gene (GITR) share a striking homology in the cytoplasmic domain. Here we report the identification of a new member, activation-inducible TNFR family member (AITR), which belongs to this subfamily, and its ligand. The receptor is expressed in lymph node and peripheral blood leukocytes, and its expression is up-regulated in human peripheral mononuclear cells mainly after stimulation with anti-CD3/CD28 monoclonal antibodies or phorbol 12-myristate 13-acetate/ionomycin. AITR associates with TRAF1 (TNF receptor-associated factor 1), TRAF2, and TRAF3, and induces nuclear factor (NF)-kappaB activation via TRAF2. The ligand for AITR (AITRL) was found to be an undescribed member of the TNF family, which is expressed in endothelial cells. Thus, AITR and AITRL seem to be important for interactions between activated T lymphocytes and endothelial cells.  (+info)

A previously undescribed intron and extensive 5' upstream sequence, but not Phox2a-mediated transactivation, are necessary for high level cell type-specific expression of the human norepinephrine transporter gene. (6/8470)

The synaptic action of norepinephrine is terminated by NaCl-dependent uptake into presynaptic noradrenergic nerve endings, mediated by the norepinephrine transporter (NET). NET is expressed only in neuronal tissues that synthesize and secrete norepinephrine and in most cases is co-expressed with the norepinephrine-synthetic enzyme dopamine beta-hydroxylase (DBH). To understand the molecular mechanisms regulating human NET (hNET) gene expression, we isolated and characterized an hNET genomic clone encompassing approximately 9. 5 kilobase pairs of the 5' upstream promoter region. Here we demonstrate that the hNET gene contains an as-yet-unidentified intron of 476 base pairs within the 5'-untranslated region. Furthermore, both primer extension and 5'-rapid amplification of cDNA ends analyses identified multiple transcription start sites from mRNAs expressed only in NET-expressing cell lines. The start sites clustered in two subdomains, each preceded by a TATA-like sequence motif. As expected for mature mRNAs, transcripts from most of these sites each contained an additional G residue at the 5' position. Together, the data strongly support the authenticity of these sites as the transcriptional start sites of hNET. We assembled hNET-chloramphenicol acetyltransferase reporter constructs containing different lengths of hNET 5' sequence in the presence or the absence of the first intron. Transient transfection assays indicated that the combination of the 5' upstream sequence and the first intron supported the highest level of noradrenergic cell-specific transcription. Forced expression of the paired-like homeodomain transcription factor Phox2a did not affect hNET promoter activity in NET-negative cell lines, in marked contrast to its effect on a DBH-chloramphenicol acetyltransferase reporter construct. Together with our previous studies suggesting a critical role of Phox2a for noradrenergic-specific expression of the DBH gene, these data support a model in which distinct, or partially distinct, molecular mechanisms regulate cell-specific expression of the NET and DBH genes.  (+info)

The ancestry of a sample of sequences subject to recombination. (7/8470)

In this article we discuss the ancestry of sequences sampled from the coalescent with recombination with constant population size 2N. We have studied a number of variables based on simulations of sample histories, and some analytical results are derived. Consider the leftmost nucleotide in the sequences. We show that the number of nucleotides sharing a most recent common ancestor (MRCA) with the leftmost nucleotide is approximately log(1 + 4N Lr)/4Nr when two sequences are compared, where L denotes sequence length in nucleotides, and r the recombination rate between any two neighboring nucleotides per generation. For larger samples, the number of nucleotides sharing MRCA with the leftmost nucleotide decreases and becomes almost independent of 4N Lr. Further, we show that a segment of the sequences sharing a MRCA consists in mean of 3/8Nr nucleotides, when two sequences are compared, and that this decreases toward 1/4Nr nucleotides when the whole population is sampled. A measure of the correlation between the genealogies of two nucleotides on two sequences is introduced. We show analytically that even when the nucleotides are separated by a large genetic distance, but share MRCA, the genealogies will show only little correlation. This is surprising, because the time until the two nucleotides shared MRCA is reciprocal to the genetic distance. Using simulations, the mean time until all positions in the sample have found a MRCA increases logarithmically with increasing sequence length and is considerably lower than a theoretically predicted upper bound. On the basis of simulations, it turns out that important properties of the coalescent with recombinations of the whole population are reflected in the properties of a sample of low size.  (+info)

Structural characterization of the gene for human histidine-rich glycoprotein, reinvestigation of the 5'-terminal region of cDNA and a search for the liver specific promoter in the gene. (8/8470)

Genomic DNA libraries were screened for the human histidine-rich glycoprotein (HRG) gene and a sequence of 15,499 nucleotides was determined. The gene is composed of 7 exons and 6 introns, and all the exon-intron boundaries match the consensus GT/AG sequence for donor and acceptor splice sites. Each of cystatin-like domains I and II of HRG is encoded by three exons, exons I to III and exons IV to VI, respectively, like those of other members of the cystatin superfamily. The entire C-terminal half of the molecule is encoded by the largest exon, VII. The first 103 nucleotides of the cDNA sequence reported for human HRG [Koide, T., Foster, D., Yoshitake, S. , and Davie, E.W. (1986) Biochemistry 25, 2220-2225] could not be found in the determined gene sequence. A homology search of this sequence against a database showed the complete matching to a part of the yeast mitochondrial DNA encoding 21S ribosomal RNA. Rapid amplification of cDNA 5' ends (5'-RACE) analysis revealed that the cDNA has multiple 5'-ends and that a possible starting point is nucleotide 104 of the reported cDNA sequence. These results suggest that the first 103 nucleotides of the cDNA sequence reported for human HRG originated from yeast mitochondrial DNA and were incidentally incorporated into the HRG cDNA in the process of the construction of a cDNA library. Various fragments obtained on restriction endonuclease digestion of the 5'-noncoding region of the HRG gene were ligated to the chloramphenicol acetyltransferase (CAT) gene and then transfected into HepG2 and 293 cells to analyze the promoter activity. The sequence between -262 and -21 from the putative translation initiation site supported the expression of CAT in HepG2 cells but not in 293 cells, suggesting that this segment promotes the liver-specific transcription of the human HRG gene.  (+info)

Thousands of experiments and studies use the human reference genome as a resource each year. This single reference genome, GRCh38, is a mosaic created from a small number of individuals, representing a very small sample of the human population. There is a need for reference genomes from multiple human populations to avoid potential biases. Here, we describe the assembly and annotation of the genome of an Ashkenazi individual and the creation of a new, population-specific human reference genome. This genome is more contiguous and more complete than GRCh38, the latest version of the human reference genome, and is annotated with highly similar gene content. The Ashkenazi reference genome, Ash1, contains 2,973,118,650 nucleotides as compared to 2,937,639,212 in GRCh38. Annotation identified 20,157 protein-coding genes, of which 19,563 are | 99% identical to their counterparts on GRCh38. Most of the remaining genes have small differences. Forty of the protein-coding genes in GRCh38 are missing from Ash1;
An international team of more than 1,000 scientists participated in a new study showing an integrated map of genetic variation from 1,092 human genomes.. A newly published compendium of the genetic alphabets of more than 1000 individuals from around the world illustrates how similar humans are - but also how crucial genetic variations can be.. The publication on November 1 in the journal Nature of the 1000 Genomes Project provides the most comprehensive catalog of human variations to date and will be indispensable to the practice of personalized medicine.. Sequencing an individuals DNA is useless in medicine unless there is a frame of reference to compare it to, said Yale Universitys Mark Gerstein, the Albert L. Williams Professor of Biomedical Informatics and one of more than 1,000 scientists who participated in international effort.. An individual human genome contains on an average 3 million variations. Without a reference library of variations, trying to hone in on the most informative ...
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
The Society runs two themed meetings each year as satellites to either the American or European Societies of Human Genetics annual meeting as a forum for scientists to exchange ideas and form collaborations. Prominent speakers in the field are invited. The meetings are designed to update and increase knowledge of human genome variation and generally attract a stimulating and interesting collection of abstracts in all fields of human genome variation making it an ideal forum to share information and results. We invite members and non-members alike to attend these meetings.. FORTHCOMING HGVS MEETINGS ...
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data
Since the completion of the Human Genome Project in 2003, it is estimated that more than 200,000 individual whole human genomes have been sequenced. A stunning accomplishment in such a short period of time. However, most of these were sequenced without experimental haplotype data and are therefore missing an important aspect of genome biology. In addition, much of the genomic data is not available to the public and lacks phenotypic information. As part of the Personal Genome Project, blood samples from 184 participants were collected and processed using Complete Genomics Long Fragment Read technology. Here, we present the experimental whole genome haplotyping and sequencing of these samples to an average read coverage depth of 100X. This is approximately three-fold higher than the read coverage applied to most whole human genome assemblies and ensures the highest quality results. Currently, 114 genomes from this dataset are freely available in the GigaDB repository and are associated with rich ...
CALL FOR PAPERS Human Genomic Variation: Disease, drug response and clinical phenotypes January 3-7, 2002 Island of Kauai, Hawaii, USA A session of the Pacific Symposium on Biocomputing 2002 The recent completion of the first assembly of the human genome has provided an invaluable tool for investigating the biology of our species. Several academic and industrial laboratories are working to add value to this raw genome sequence by generating DNA variation and gene expression data. However, researchers are encountering substantial challenges regarding the management, annotation and analysis of this information. Many of the critical issues involved in linking genetic variation to clinical phenotypes are complicated by a need to synthesize biological and computational expertise. For example, there is a need to apply and extend population genetic analyses to high- throughput data to elucidate underlying patterns of variation in the human genome. When operating at a high-throughput mode, extensive ...
There are 481 segments longer than 200 base pairs (bp) that are absolutely conserved (100% identity with no insertions or deletions) between orthologous regions of the human, rat, and mouse genomes. Nearly all of these segments are also conserved in the chicken and dog genomes, with an average of 95 and 99% identity, respectively. Many are also significantly conserved in fish. These ultraconserved elements of the human genome are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development. Along with more than 5000 sequences of over 100 bp that are absolutely conserved among the three sequenced mammals, these represent a class of genetic elements whose functions and evolutionary origins are yet to be determined, but which are more highly conserved between these species than are proteins and appear to be essential for the ontogeny of mammals and other vertebrates.
The stored 5.3 billion base pairs represent 2.58 billion base pairs of unique sequence which have been calculated to cover about 81 percent of an estimated genome size of 3.18 billion base pairs. These data, combined with all of the finished and draft human genome sequence data from the public databases, give Celera coverage of 90 percent of the human genome. The companys sequencing was performed on 300 PE Biosystems ABI Prism 3700 DNA Analysers.. The whole genome shotgun technique concentrates on sequencing the entire genome at once, allowing for real time discovery of human genes across the entire genome, according to J. Craig Venter, Ph.D., who is Celeras president and chief scientific officer. The early phase of sequencing the human genome using the whole genome shotgun process is especially important for gene discovery. Today, we are rapidly coming to an end of that phase. Our statistical analysis and comparison to known genes suggest that more than 97 percent of all human genes are ...
Release of the first human genome assembly was a landmark achievement, and after nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and compl
Watson-Crick base-pair changes, or single-nucleotide variants (SNV), have long been known as a source of mutations. However, the extent to which DNA structural variation, including duplication and deletion copy number variants (CNV) and copy number neutral inversions and translocations, contribute to human genome variation and disease has been appreciated only recently. Moreover, the potential complexity of structural variants (SV) was not envisioned; thus, the frequency of complex genomic rearrangements and how such events form remained a mystery. The concept of genomic disorders, diseases due to genomic rearrangements and not sequence-based changes for which genomic architecture incite genomic instability, delineated a new category of conditions distinct from chromosomal syndromes and single-gene Mendelian diseases. Nevertheless, it is the mechanistic understanding of CNV/SV formation that has promoted further understanding of human biology and disease and provided insights into human genome ...
Milestone crossed on the 15th anniversary of the completion of the Human Genome Project, as the worldwide estimate for whole human genomes sequenced approaches one million
Received January 23, 2003 The recent sequencing of the human genome, resulting from two independent global efforts, is poised to revolutionize all aspects of human health. This landmark achievement has also vindicated two different methodologies that can now be used to target other important large genomes. The human genome sequence has revealed several novel/surprising features notably the probable presence of a mere 30-35,000 genes. In depth comparisons have led to classification of protein families and identification of several orthologues and paralogues. Information regarding non-protein coding genes as well as regulatory regions has thrown up several new areas of research. Although still incomplete, the sequence is poised to become a boon to pharmaceutical companies with the promise of delivering several new drug targets. Several ethical concerns have also been raised and need to be addressed in earnest. This review discusses all these aspects and dwells on the possible impact of the human ...
The human genome is by far the largest genome to be sequenced, and its size and complexity present many challenges for sequence assembly. The International Human Genome Sequencing Consortium constructed a map of the whole genome to enable the selection of clones for sequencing and for the accurate a …
View Notes - SNPsW11 from BIMM 101 at UCSD. How much does DNA sequence vary among humans? Some estimates are that human genome 99.5 - 99.9% similar among individuals Human genome about 3,000,000,000
Of course the biggest hook of this announcement has been that Illumina is claiming to have made possible, for the first time ever (others have claimed this but failed to deliver), a sequenced human genome for under $1,000. Now of course this claim comes with a bit of a caveat. According to Illumina, running a single sample (so a single human genome) will cost about $800 in reagents, so technically a single human genome will cost less than $1,000. However, these machines are selling for $1 million each, and you have to purchase them in sets of ten, so the machine cost up front will be about $10,000,000. After you consider the costs associated with preparing the DNA for sequencing, the costs associated with maintaining and running the machines, and the analyses required for the data, it seems like we may be getting out of that $1,000 range. I have not done the math, so I cant give you a detailed explanation or say exactly what the cost is going to be. Fortunately another blogger outlined some ...
Jasper D. Rine was named on May 13 the Acting Director of the Human Genome Center at Lawrence Berkeley Laboratory (LBL) and to a position in the LBL Cell and Molecular Biology Division, of which the center is a major component. Rine will maintain his current professorship of genetics at the University of California, Berkeley (UCB), which he joined in 1982.. The Human Genome Center at LBL is an opportunity to establish for the biology community the same synergistic relationship between LBL and the UCB campus that exists in physics and chemistry, Rine said. The Berkeley environment is one of the few places where a major research university and a major DOE facility are physically adjacent, and I believe this proximity can foster interaction to catalyze new scientific discoveries. Rine expects to add an emphasis on genetics and genetic analysis to the current strengths in instrumentation, informatics, and physical mapping.. As a member of the LBL Human Genome Center Advisory Committee, Rine will ...
This post was published earlier on ZYX Buy Change Alert. Last year Human Genome Sciences Inc. (HGSI) successfully introduced the first new treatment for Lupus in a very long time. GlaxoSmithKline (GSK), the big drug giant, is Human Genomes partner.. Human Genome has disclosed that it received an unsolicited $13.00 per share cash offer from GlaxoSmithKline.. It is likely that the deal will ultimately get done at a premium to the present bid of $13.00 per share.. Buy zone is $12.50 to $13.56. To control risk consider not exceeding 20% of full core position size. Stop zone is$11.48 to $11.75. Target zone is $16 to $18.. Caution: Consider not chasing the price even at the risk of missing the trade. Further it is important to keep the position small because of the risk involved. There is no guarantee that a deal will done.. ...
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., OMeara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G., Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.. Cancers arise owing to mutations in a subset of genes that confer growth advantage. The availability of the human genome sequence led us to propose that systematic resequencing of cancer genomes for mutations would lead ...
The latest issue of Nature is just as it should be: nearly wall-to-wall human genomics, with a special focus on personal genomics (more on that later).. The main event is a potential historical milestone: quite possibly the last two papers ever to be published in a major journal describing the sequencing of single human genomes from healthy individuals1. The papers, which both appear to be open access (kudos to Nature for that decision) describe the analysis of the first Asian genome by researchers at the Beijing Genomics Institute, and the sequencing of the first African genome by a cast of thousands centred around next-gen sequencing company Illumina. Both genomes were sequenced using next-generation sequencing technology from Illumina, which generates sequence information in the form of very short (35-50 base pair) reads. Although each read is extremely short and relatively error-prone compared to reads from old-fashioned sequencing methods, the sheer number of reads generated by the Illumina ...
The mission of CDCs Public Health Genomics is to integrate advances in human genetics into public health research, policy, and programs
Arrayit Dendritic & Antigen Presenting Cell Pathways™ Focused Human Genome Microarrays contain 89 genes selected for targeted studies of the human dendritic & antigen presenting cell pathway. Arrayit Pathways™ Microarrays gene content is derived from our H25K Whole Human Genome Microarray constructed using highly optimized and unique long-mer oligonucleotides designed to maximize detection of the greatest number of cellular transcripts in the human transcriptome with
In a study appearing in PLoS Genetics, a Stanford University-led team described the ethnicity-specific reference genome approach it used to analyze whole genome sequences from four members of a single family.. By incorporating estimated allele frequency data from the 1000 Genomes Project into the existing human reference genome, the researchers came up with three synthetic human genome references containing the major alleles identified in European, African, or East Asian populations - a strategy thats intended to more accurately represent the genetic variation present in each of the major HapMap populations.. There has been a large focus, at least in the genome-wide association study space, on Caucasian populations, first author Frederick Dewey, a researcher at Stanford Universitys Center for Inherited Cardiovascular Disease, told GenomeWeb Daily News. What we hope to show is that ethnicity certainly matters - it begins at the point of genome assembly and carries all the way through ...
In just the span of an average lifetime, science has made leaps and bounds in our understanding of the human genome and its role in heredity and health-from the first insights about DNA structure in the 1950s to the rapid, inexpensive sequencing technologies of today. However, the 20,000 genes of the human genome are more than DNA; they also encode proteins to carry out the countless functions that are key to our existence. And we know much less about how this collection of proteins supports the essential functions of life.. In order to understand the role each of these proteins plays in human health-and what goes wrong when disease occurs-biologists need to figure out what these proteins are and how they function. Several decades ago, biologists realized that to answer these questions on the scale of the thousands of proteins in the human body, they would have to leave the comfort of their own discipline to get some help from a standard analytical-chemistry technique: mass spectrometry. Since ...
By Boonsri Dickinson. Long before he could grow his signature beard, geneticist George Church fantasized about sequencing the genomes of mankind.. Today, that dream is a reality.. Three years before anyone else thought to sequence genomes -- 1987, to be precise -- Church was in his Harvard University laboratory unraveling the DNA data code.. Hype is mounting for the 10-year anniversary of the announcement of the first draft of the human genome, officially this June.. But Church admits that hes not at all impressed -- despite $3 billion already invested, humanity is far from completely decoding the human genome.. Perhaps no one has seen genomics as up-and-close as Church, who became his own guinea pig in thePersonal Genome Project, or PGP. To date, the project counts more than 16,000 volunteers -- but only a select dozen has made their genetic and medical history public.. Eventually, 100,000 people will be sequenced through the project.. This week, Church is in Steamboat Springs, Colorado, where ...
One of most striking discoveries to arise from comparative genomic studies of the human genome is that the majority of functional sequences that have been under purifying selection during mammalian evolution do not encode proteins (1). Specifically, comparative genomics of the human, dog, mouse, and rat (HDMR) has revealed that ≈5-6% of the human genome is under purifying selection, but only 1-2% of this sequence is attributable to protein-coding sequences. The remainder consists of conserved noncoding elements (CNEs). Intense interest has focused on trying to decipher the function of these CNEs, which are likely to control gene regulation, chromosome structure, and other key functions.. Deciphering the function of the CNEs is particularly challenging because the vast majority seem to be unique in the genome; so far, no large families of similar CNEs have been discovered. For example, a study of the mammalian CNEs within a 1.8 Mb region containing the cystic fibrosis gene (CFTR) found the vast ...
The human genome-the sum total of hereditary information in a person-contains a lot more than the protein-coding genes teenagers learn about in school, a massive international project has found. When researchers decided to sequence the human genome in the late 1990s, they were focused on finding those traditional genes so as to identify all the proteins necessary for life. Each gene was thought to be a discrete piece of DNA; the order of its DNA bases-the well-known letter molecules that are the building blocks of DNA-were thought to code for a particular protein. But scientists deciphering the human genome found, to their surprise, that these protein-coding genes took up less than 3% of the genome. In between were billions of other bases that seemed to have no purpose. Now a U.S.-funded project, called the Encyclopedia of DNA Elements (ENCODE), has found that many of these bases do, nevertheless, play a role in human biology: They help determine when a gene is turned on or off, for example. ...
Folder 2: Correspondence and papers relating to the sequencing of the human genome. Includes papers relating to Bodmer, W.F. (1987) The human genome sequence and the analysis of multifactorial traits. In Molecular Approaches to Human Polygenic Diseases, Volume 130, Ciba Foundation, ed. (Chichester: J Wiley & Sons), pp. 215-228 ...
Recent studies generating complete human sequences from Asian, African and European subgroups have revealed population-specific variation and disease susceptibility loci. Here, choosing a DNA sample from a population of interest due to its relative geographical isolation and genetic impact on further populations, we extend the above studies through the generation of 11-fold coverage of the first Irish human genome sequence. Using sequence data from a branch of the European ancestral tree as yet unsequenced, we identify variants that may be specific to this population. Through comparisons with HapMap and previous genetic association studies, we identified novel disease-associated variants, including a novel nonsense variant putatively associated with inflammatory bowel disease. We describe a novel method for improving SNP calling accuracy at low genome coverage using haplotype information. This analysis has implications for future re-sequencing studies and validates the imputation of Irish haplotypes
Anne Trafton, MIT News Office. Only about 1 percent of the human genome contains gene regions that code for proteins, raising the question of what the rest of the DNA is doing. Scientists have now begun to discover the answer: About 80 percent of the genome is biochemically active, and likely involved in regulating the expression of nearby genes, according to a study from a large international team of researchers.. The consortium, known as ENCODE (which stands for Encyclopedia of DNA Elements), includes hundreds of scientists from several dozen labs around the world. Using genetic sequencing data from 140 types of cells, the researchers were able to identify thousands of DNA regions that help fine-tune genes activity and influence which genes are expressed in different kinds of cells.. Just as the sequencing of the human genome helped scientists learn how mutations in protein-coding genes can lead to disease, the new map of noncoding regions should provide some answers on how mutations in the ...
Detailed explorations of the human genome are showing that individual genes may have complex structures, and that much of what had been called junk DNA is not junk at all.
New, higher-quality assemblies of great ape genomes have now been generated without the guidance of the human reference genome. The effort to reduce humanizing discovery bias in great ape genomes provides a clearer view of the genetic differences that arose as humans diverged from other primates. In the June 8 issue of Science, researchers report on improved orangutan and chimpanzee genomes that were built from scratch using long-read PacBio sequencing and long-range mapping technology.
We report that 18 conserved, and by extension functional, elements in the human genome are the result of retroposon insertions that are evolving under purifying selection in mammals. We show evidence that 1 of the 18 elements regulates the expression of ASXL3 during development by encoding an altern …
In order to contribute to the establishment of a complete map of transcribed regions of the human genome, we constructed a testicular cDNA library for the cynomolgus monkey, and attempted to find novel transcripts for identification of their human homologues. The full-insert sequences of 512 cDNA clones were determined. Ultimately we found 302 non-redundant cDNAs carrying open reading frames of 300 bp-length or longer. Among them, 89 cDNAs were found not to be annotated previously in the Ensembl human database. After searching against the Ensembl mouse database, we also found 69 putative coding sequences have no homologous cDNAs in the annotated human and mouse genome sequences in Ensembl. We subsequently designed a DNA microarray including 396 non-redundant cDNAs (with and without open reading frames) to examine the expression of the full-sequenced genes. With the testicular probe and a mixture of probes of 10 other tissues, 316 of 332 effective spots showed intense hybridized signals and 75 cDNAs were
Among the 518 kinases identified in the human genome are many exciting targets for cancer drug discovery (22). Molecular alterations in numerous kinases have been documented to drive malignant proliferation either via overexpression or activation, the latter secondary to an acquired mutation. Where dependence on a kinase is essential to the phenotype of a tumor, the term oncogene addiction has been coined. It is interesting that where such oncogene addiction is observed, the kinase inhibitors can have dramatic effects, whereas a lesser effect is observed on cells with mere overexpression of the target. An example of this is the activity of gefitinib or erlotinib in lung cancers with or without mutations in epidermal growth factor receptor (23). Can this be considered cytotoxicity on the one hand but cytostasis on the other? On examination of these agents, it becomes clear that the outcome, cytostasis or cytotoxicity, may depend less on the agent and more on the cellular context, especially the ...
While we cannot exclude entirely the possibility of off target modifications in addition to on target cleavage, we believe it represents a relatively low and controllable risk, as a number of recent publications have demonstrated that the CRISPR-Cas9 system is to be highly specific (e.g. Cencic et al).. Further to this a collaborator group have published a paper where they examine off-targets in the HAP1 cell line and observe very low frequencies.. At Horizon, to mitigate the risk still further our in-house selection algorithms warrant that only those guide RNAs with minimal predicted off-target sites in the human genome are chosen. Further to this, scientists can control their experiments through the use of multiple, independent clones or rescue of the knockout with a wild-type cDNA.. ...
So this week, in over 30 different journals, a detailed study was reported on the nature of the over 3 billion nucleotides (the fundamental building blocks of genes and thus of DNA) that make up the human genome. In the turn of this century, the human genome was completely sequenced (identified at the nucleotide level). …
Video created by Novosibirsk State University for the course From Disease to Genes and Back. This week you will learn about human genome organisation. This week is very important as all this knowledge will form a basis for all of the ...
Human Genome Sciences Inc. has decided to drop one of its three late-stage development drugs after feedback from the U.S. Food and Drug Administration indicated it was not likely to be approved. The company said Tuesday it would stop development .... Tagged with: FDA human genome sciences. Read More » ...
Deals with the agreement between Human Genome Sciences Inc. and Aventis Behring L.L.C. to co-develop and jointly market an Aventis Behring plasma protein product. Reports that Human Genome Sciences, Inc. and Aventis Behring L.L.C. have signed a development and commercialization agreement to co-develop and jointly market an Aventis Behring blood plasma protein product. Possible product advantages of linking a therapeutic plasma protein with albumin; Contact information ...
Manhattan Beach, California. These are not simply my claims: The preponderance of scientifically verified biological data do not support the substructure of human populations into any discrete, internally consistent racial subgroups. When sampled adequately, the genetic differences in populations dissolve into a continuum of variation. The partitioning of humans into biological races was permissible when the knowledge of our genetic inheritance was based on less than 0.1 percent of the human genome. However, based on data now available, we see that the sequence of the 3 billion nucleotides in any individual genome is unique in comparison with the sequence of another individuals genome, while the degree of sequence similarity between the 3 billion nucleotides in any two genomes is remarkably high. The uniqueness of the individual human genome in the presence of extreme similarity between any two genomes challenges the concept of human races. The reader implies that a scientist cannot be both ...
Centromeric alpha satellite (AS) is composed of highly identical higher-order DNA repetitive sequences, which make the standard assembly process impossible. Because of this the AS repeats were severely underrepresented in previous versions of the human genome assembly showing large centromeric gaps. The latest hg38 assembly (GCA_000001405.15) employed a novel method of approximate representation of these sequences using AS reference models to fill the gaps. Therefore, a lot more of assembled AS became available for genomic analysis. We used the PERCON program previously described by us to annotate various suprachromosomal families (SFs) of AS in the hg38 assembly and presented the results of our primary analysis as an easy-to-read track for the UCSC Genome Browser. The monomeric classes, characteristic of the five known SFs, were color-coded, which allowed quick visual assessment of AS composition in whole multi-megabase centromeres down to each individual AS monomer. Such comprehensive annotation of AS
Razib points me to a great plain-language article reviewing our current scientific understanding of human genetic variation. The major focus is on copy-number variants (CNVs) - genetic variants involving the insertion or deletion of large chunks of DNA, sometimes spanning over a million bases. These large-scale variants lurked essentially unknown within the human genome until […]
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Putting the Genome on the Map. The scale of the human genome is staggering. Our 80,000 genes account for only a small part of the delicate thread of three thousand million bases of sequence that we carry on our chromosomes. Encoded within this part of the sequence are the Instructions for making a complete set of proteins that drive all of the processes in our cells. We have almost no idea about what functions, if any, the rest of the sequence might have. Determining the sequence of the human genome - both that of the genes and that of the non-coding regions - is going to tell us much about our biology. However, there is also a lot that we will not be able to fathom from the sequence of the human genome alone. We need to broaden our horizons when thinking about the map of the human genome and the richness of information that we want it to contain. We need to understand how chromosome environment can perturb gene function every bit as effectively as mutation within gene sequence and how ...
DNA Transposons. pseudogenes. However, there is also a large amount of sequence that does not fall under any known classification.. Much of this sequence may be an evolutionary artifact that serves no present-day purpose, and these regions are sometimes collectively referred to as junk DNA. There are, however, a variety of emerging indications that many sequences within are likely to function in ways that are not fully understood. Recent experiments using microarrays have revealed that a substantial fraction of non-genic DNA is in fact transcribed into RNA,[6] which leads to the possibility that the resulting transcripts may have some unknown function. Also, the evolutionary conservation across the mammalian genomes of much more sequence than can be explained by protein-coding regions indicates that many, and perhaps most, functional elements in the genome remain unknown.[7] The investigation of the vast quantity of sequence information in the human genome whose function remains unknown is ...
The first round of genomics companies had two basic scientific strategies. Companies such as Incyte and Human Genome Sciences planned to sequence the expressed genes & some how sift out the good stuff. Another set of companies, such as Millennium, Sequana, Myriad and Mercator planned to find important genes through positional cloning. Positional cloning uses either carefully collected human family samples or carefully bred mice to identify regions of the genome that track with the trait of interest. By progressively refining the resolution of the genetic maps, the work could narrow down the region to something that could be sequenced. Further arduous screening of the genes in that region for mutations which tracked with the trait would eventually nail down the gene. Prior to the human genome sequence this was a long & difficult process, and sometimes in the end not all the ambiguity could be squeezed out. It is still serious work, but the full human genome sequence and tools such as gene mapping ...
The theoretical price of having ones personal genome sequenced just f...The sharp drop is due to a new DNA sequencing technology developed by ...The Church groups technology is based on converting a widely availabl... Meeting the challenge of the $1000 human genome requires a significa...The new technique calls for replicating thousands of DNA fragments att...,A,step,toward,the,$1,000,personal,genome,using,readily,available,lab,equipment,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
... genome sequencing.[7] Their model was also used in designing the Human Genome Project and continues to play an important role ... Post Human Genome Project advancements[edit]. The physical processes and protocols of DNA sequencing have continued to evolve, ... 2 Post Human Genome Project advancements *2.1 Various artifacts of large-insert sequencing ... "The diploid genome sequence of an individual human". PLOS Biology. 5 (10): article e254. doi:10.1371/journal.pbio.0050254. PMC ...
4 Genome. *5 Human interaction *5.1 In captivity. *6 References. *7 External links *7.1 Research and info ... Genome[edit]. In 2016, researchers from China National Genebank and A*STAR Singapore, including Nobel laureate Sydney Brenner, ... Among humans, sunfish are considered a delicacy in some parts of the world, including Japan, Korea, and Taiwan. In the EU, ... Despite their size, ocean sunfish are docile, and pose no threat to human divers.[23] Injuries from sunfish are rare, although ...
"Genome Human *^ "There is Crick the mentor, Crick the atheist, Crick the free-thinker, and Crick the playful."Entertaining Dr ... famous for describing human behaviour from a zoological perspective in his books The Naked Ape and The Human Zoo.[240][241] ... UCLA Oral History of Human Genetics. October 27, 2005. But that tells you about my religious affiliation, which is not very ... Haldane was also the first to construct human gene maps for haemophilia and colour blindness on the X chromosome and he was one ...
"Transcriptome analysis of human gastric cancer". Mammalian Genome. 16 (12): 942-54. doi:10.1007/s00335-005-0075-2. PMID ... "Generation and analysis of 280,000 human expressed sequence tags". Genome Research. 6 (9): 807-28. doi:10.1101/gr.6.9.807. PMID ... Probable G-protein coupled receptor 34 is a protein that in humans is encoded by the GPR34 gene.[5][6][7] ... "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins ...
"Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. ... "An Online Catalog of Human Genes and Genetic Disorders.. *^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 ... Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ... See also: Category:Genes on human chromosome 17.. The following is a partial list of genes on human chromosome 17. For complete ...
"Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human ...
"Escape from X inactivation in mice and humans". Genome Biology. 11 (6): 213. doi:10.1186/gb-2010-11-6-213. PMC 2911101 . PMID ... XiP XiM zygote → undergoing zygotic genome activation, leading to:. *XaP XaM → undergoing imprinted (paternal) X-inactivation, ... and the whole embryonic genome is silenced until zygotic genome activation. Thereafter, all mouse cells undergo an early, ... "Genome Research. 20 (5): 614-22. doi:10.1101/gr.103200.109. PMC 2860163 . PMID 20363980.. ...
The human genome - International Human Genome Sequencing Consortium (2001). "Initial sequencing and analysis of the human ... Jacques Benveniste and his team's work studying human basophil degranulation in the presence of extremely dilute antibody serum ... their paper concluded that less than a single molecule of antibody could trigger an immune response in human basophils, defying ... genome". Nature. 409 (6822): 860-921. Bibcode:2001Natur.409..860L. doi:10.1038/35057062. PMID 11237011.. ...
OPTN human gene location in the UCSC Genome Browser.. *OPTN human gene details in the UCSC Genome Browser. ... "Mouse Genome Informatics".. *^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "American Journal of Human Genetics. 62 (3): 641-52. doi:10.1086/301767. PMC 1376961. PMID 9497264.. ...
"Human Genome Project Information". Human Genome Project. Archived from the original on 15 March 2008. Retrieved 15 March 2008. ... These technologies were used to sequence the human genome in the Human Genome Project completed in 2003.[35] New high- ... "The sequence of the human genome". Science. 291.. *^ Griffiths, Anthony J. F.; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, ... to edit the human genome in a way that can be inherited.[99][100][101][102] In April 2015, Chinese researchers reported results ...
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... "Mouse Genome Informatics.. *. Millington GW (May 2006). "Proopiomelanocortin (POMC): the cutaneous roles of its melanocortin ... "American Journal of Human Genetics. 66 (4): 1351-61. doi:10.1086/302863. PMC 1288200. PMID 10733465.. ... "Human Molecular Genetics. 9 (17): 2531-7. doi:10.1093/hmg/9.17.2531. PMID 11030758.. ...
Human Genome Organisation. Archived from the original on 4 January 2014.. *^ HUGO Pan-Asian SNP Consortium; Abdulla MA; Ahmed I ... Findings from HUGO (Human Genome Organization) in 2009 further corroborated the studies when it concluded that Asia was ... They typically depict human figures (particularly a front facing human figure with flexed arms), birds, lizards, dogs, fish, ... Human Biology. 85 (1): 45-66.. *^ Détroit, F.; Mijares, A.S.; Corny, J.; Daver, G.; Zanolli, C.; Dizon, E; Robles, E.; Grün, R ...
Human ATRX genome location and ATRX gene details page in the UCSC Genome Browser. ... Human RAD54L genome location and RAD54L gene details page in the UCSC Genome Browser. ... November 1994). "Cloning and characterization of a new human Xq13 gene, encoding a putative helicase". Human Molecular Genetics ... "Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein". Human Molecular Genetics ...
... and 10 and human chromosome 19". Mammalian Genome. 6 (3): 212-3. doi:10.1007/BF00293017. PMID 7749232.. ... sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422-35. doi:10.1101/gr. ... "Genome Research. 14 (10B): 2136-44. doi:10.1101/gr.2576704. PMC 528930 . PMID 15489336.. ... Synaptotagmin-3 is a protein that in humans is encoded by the SYT3 gene.[5][6] ...
Paired box gene 2, also known as PAX2 is a protein which in humans is encoded by the PAX2 gene.[5][6] ... Genome Research. 6 (9): 791-806. doi:10.1101/gr.6.9.791. PMID 8889548.. ... Nolte J (2009). The human brain: an introduction to its functional anatomy (6th ed.). Philadelphia, PA: Mosby/Elsevier. p. 685 ... Stayner CK, Cunliffe HE, Ward TA, Eccles MR (Sep 1998). "Cloning and characterization of the human PAX2 promoter". The Journal ...
There are about 3.2 billion nucleotide pairs on all the human chromosomes: this is the human genome. The order of the ... Human Genome Project Information. Oak Ridge National Laboratory. Retrieved 2006-05-28.. ... Humans have two copies of each of their genes, and make copies that are found in eggs or sperm-but they only include one copy ... For example, in humans, one allele of the eye-color gene produces green eyes and another allele of the eye-color gene produces ...
"MMA Study: FAQ About Our Study". Retrieved April 26, 2016. Dionisi-Vici C, Deodato F, Raschinger W, Rhead W, ... Journal of Human Genetics. 52 (1): 48-55. doi:10.1007/s10038-006-0077-2. PMID 17075691. Higginbottom MC, Sweetman L, Nyhan WL ( ... "MMA Study: General Information". Retrieved 2015-11-03. "Acidemia, Methylmalonic - NORD (National Organization ...
"Human Genome Project Information. U.S. Department of Energy Genome Programs. 7 July 2010.. ... Because humans have a diploid genome, each cell has two copies of the gene (one from each biological parent). Typically only ... "Human Reproduction Update. 20 (5): 688-701. doi:10.1093/humupd/dmu020. ISSN 1355-4786. PMID 24821925.. ... "Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study". Nat. Genet ...
Approximately 90% of the maize genome is made up of TEs,[11][12] as is 44% of the human genome.[13] ... of the human genome. In human cells, silencing of LINE1 sequences is triggered by an RNA interference (RNAi) mechanism. ... It is approximately 300 bases long and can be found between 300,000 and one million times in the human genome. Alu alone is ... Kazazian HH, Moran JV (May 1998). "The impact of L1 retrotransposons on the human genome". Nature Genetics. 19 (1): 19-24. doi: ...
Because the human genome has over 22,000 genes, there are 3.5 million variants in the average person's genome. These variants ... "National Human Genome Research Institute. Retrieved 23 April 2015.. *^ "Genetic Testing: MedlinePlus". ... in people's genomes, making them the most common variations in the human genome. SNPs reveal information about an individual's ... Human Genome Project Information. Gene Testing *^ Holtzman NA, Murphy PD, Watson MS, Barr PA (October 1997). "Predictive ...
Finally, the Human Genome Project was launched in 1990 with the goal of mapping the general human genome. This project was ... The Human Genome Project was the first step in a globalized effort to incorporate accumulated knowledge of biology into a ... "Human genome finally complete". BBC News. Retrieved 2006-07-22.. *^ Mazzarello, P (May 1999). "A unifying concept: the history ... The field of animal physiology extends the tools and methods of human physiology to non-human species. Plant physiology borrows ...
Human Genome Project, 1996. Summary of Principles Agreed Upon at the First International Strategy Meeting on Human Genome ... The Human Genome Project was a major initiative that exemplified the power of open data. It was built upon the so-called ... "Data belongs to the human race". Typical examples are genomes, data on organisms, medical science, environmental data following ... While the human abstraction of facts from paper publications is normally accepted as legal there is often an implied ...
After the human and chimpanzee genomes were sequenced and compared, it was usually impossible to tell whether differences were ... coming to rely on handouts or refuse from humans.[7] They adapt well to human presence, and form larger troops in human- ... The chimpanzee and human genome diverged 6 million years ago. They have 98% identity and many conserved regulatory regions. ... The macaque genome has 33 major histocompatibility genes, three times those of human. This has clinical significance because ...
International Human Genome Sequencing Consortium (2004-10-21). "Finishing the euchromatic sequence of the human genome". Nature ... "National Human Genome Research Institute. 2011-11-28. Archived from the original on 2012-01-27. Retrieved 2012-02-09.. ... "A concurrent resolution designating April 2003 as "Human Genome Month" and April 25 as "DNA Day"" (PDF). United States ... Every year from 2003 onward, annual DNA Day celebrations have been organized by the National Human Genome Research Institute ( ...
Christley S, Lu Y, Li C, Xie X; Lu; Li; Xie (Jan 15, 2009). "Human genomes as email attachments". Bioinformatics. 25 (2): 274-5 ... Pavlichin DS, Weissman T, Yona G; Weissman; Yona (September 2013). "The human genome contracts again". Bioinformatics. 29 (17 ... have compression ratios of up to 1200-fold-allowing 6 billion basepair diploid human genomes to be stored in 2.5 megabytes ( ... relative to a reference genome or averaged over many genomes).[37][38]. For a benchmark in genetics/genomics data compressors, ...
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.[5][6][7] ... Genome Research. 6 (9): 791-806. doi:10.1101/gr.6.9.791. PMID 8889548.. ... "American Journal of Human Genetics. 61 (3): 571-80. doi:10.1086/515523. PMC 1715956. PMID 9326322.. ... "American Journal of Human Genetics. 61 (6): 1287-92. doi:10.1086/301646. PMC 1716085. PMID 9399904.. ...
"National Human Genome Research Institute. Archived from the original on 22 October 2020. Retrieved 10 October 2020.. ... "Your Genome. Welcome Genome Campus. Archived from the original on 29 November 2020. Retrieved 12 January 2021.. ... "The genome of bacteriophage T4: an archeological dig". Genetics. 168 (2): 575-82. doi:10.1093/genetics/168.2.575. PMC 1448817 ...
"A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation". Nature Communications ... The Caucasian race (also Caucasoid,[1] or Europid)[2] is a grouping of human beings historically regarded as a biological taxon ... "Genome Biol. 3 (7): comment2007.2001-12. doi:10.1186/gb-2002-3-7-comment2007. PMC 139378 . PMID 12184798.. ... The Human Skeleton in Forensic Medicine. Springfield: Charles C.Thomas.. *^ Racial Identification in the Skull and Teeth, Totem ...
"Parameters of the human genome". Proceedings of the National Academy of Sciences of the United States of America. 88 (17): 7474 ... calculated that the female genome is 4782 centimorgans long, while the male genome is only 2809 centimorgans long.[3] ... One centimorgan corresponds to about 1 million base pairs in humans on average.[1][2] The relationship is only rough as the ... The number of base-pairs to which it corresponds varies widely across the genome (different regions of a chromosome have ...
"Human Genome Organization: RBPJ Report".. *^ Hsieh JJ, Henkel T, Salmon P, Robey E, Peterson MG, Hayward SD (Mar 1996). " ... Recombining binding protein suppressor of hairless is a protein that in humans is encoded by the RBPJ gene.[5][6][7] ... "Intracellular forms of human NOTCH1 interact at distinctly different levels with RBP-jkappa in human B and T cells". Leukemia. ... RBPJ[8] also known as CBF1, is the human homolog for the Drosophila gene Suppressor of Hairless. Its promoter region is ...
International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome.. Nature. 2001, 409 (6822 ... Mitochondrial DNA and human history. The Human Genome. 2003-10-09 [2006-09-19]. (原始内容存档于2015-09-07) (英语).. ... Initial sequence of the chimpanzee genome and comparison with the human genome.. Nature. 2005, 437 (7055): 69-87. PMID 16136131 ... Olson M, Varki A. Sequencing the chimpanzee genome: insights into human evolution and disease.. Nat Rev Genet. 2003, 4 (1): 20- ...
"Human PubMed Reference:". "Mouse PubMed Reference:". Duronio RJ, Reed SI, Gordon JI (May 1992). "Mutations of human myristoyl- ... 1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353-8. doi:10.1101/gr.7.4.353. PMC 139146 . PMID 9110174 ... Lee PP, Linial ML (1994). "Efficient particle formation can occur if the matrix domain of human immunodeficiency virus type 1 ... Tashiro A, Shoji S, Kubota Y (1990). "Antimyristoylation of the gag proteins in the human immunodeficiency virus-infected cells ...
Genus Lymphocryptovirus (mit Species Human herpesvirus 4, en. Human gammaherpesvirus 4 (HHV-4), syn. Epstein-Barr-Virus (EBV)) ... Fusariviridae, auf: NCBI Genomes *↑ D. F. Quito-Avila, P. M. Brannen, W. O. Cline, P. F. Harmon, R. R. Martin: Genetic ... Human metapneumovirus (HMPV), sowie Avianes Metapneumovirus - en. Avian metapneumovirus (AMPV). *Genus Orthopneumovirus, mit ... Marion Heller-Dohmen et al.: The nucleotide sequence and genome organization of Plasmopara halstedii virus, in: Virol J. 2011; ...
of Health and Human Services (US HHS). May 2002. Archived from the original on 2005-12-08. Retrieved 2006-07-11.. Cite journal ... They quoted one of these scientists, Steven Salzberg, a genome researcher and computational biologist at the University of ... Some alternative practices are based on theories that contradict the science of how the human body works; others resort to the ... as far as the human body is concerned, 'natural' is meaningless... Equally, what's so safe about consuming substances that need ...
If the genome is not available, it may be an option to sequence the identified region and determine the putative functions of ... "Human Genetics for 1st Year Students: Multifactorial Inheritance". Retrieved 6 January 2007.. ... For organisms whose genomes are known, one might now try to exclude genes in the identified region whose function is known with ... An example of a polygenic trait is human skin color variation. Several genes factor into determining a person's natural skin ...
It is estimated that up to a third of the human proteome[4] may be membrane proteins.[5] Some of these proteins are linked to ... The entire set of proteins expressed by a genome, cell, tissue or organism. ...
"DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human ... "Genome Res. 10 (11): 1788-95. PMC 310948. . PMID 11076863. doi:10.1101/gr.143000. ... 1989). "Expression of biologically active human follitropin in Chinese hamster ovary cells". J. Biol. Chem. 264 (9): 4769-75. ... 1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. PMID ...
The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... As a significant human pathogenic bacterium S. pneumoniae was recognized as a major cause of pneumonia in the late 19th century ... The ability of S. pneumoniae to repair the oxidative DNA damages in its genome, caused by this host defense, likely contributes ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
"A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC ... MN1 is a gene found on human chromosome 22, with gene map locus 22q12.3-qter.[5] Its official full name is meningioma ( ... 2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics. 7 (3): 499-508. doi:10.1074/mcp. ... "MN1, a novel player in human AML". Blood Cells Mol. Dis. 39 (3): 336-9. doi:10.1016/j.bcmd.2007.06.009. PMC 2387274. PMID ...
... virus genomes contain seven genes including 3'-UTR-NP-VP35-VP40-GP-VP30-VP24-L-5'-UTR.[33][47] The genomes of the five ... Human-to-human transmission of EBOV through the air has not been reported to occur during EVD outbreaks,[3] and airborne ... Replication of the viral genome results in full-length, positive-strand antigenomes that are, in turn, transcribed into genome ... human consumption of bushmeat has been linked to animal-to-human transmission of diseases, including Ebola.[80] ...
... and other human-made water features in the regions they inhabit, and are often tolerated or encouraged in human habitat due to ... but the nuclear genome displays a notable lack of genetic structure.[18] Haplotypes typical of American mallard relatives and ... and other human-made waterways - even to the point of visiting water features in human courtyards.[124] ... Relationship with humansEdit. Further information: Domestic duck. DomesticationEdit. Mallards have often been ubiquitous in ...
By c. 45,000 BP, humans lived at 61°N latitude in Europe.[8] By c. 30,000 BP, Japan was reached, and by c. 27,000 BP humans ... "Callaway, Ewen (22 September 2011), "First Aboriginal genome sequenced", Nature, Nature News, doi:10.1038/news.2011.551 ... The third chimpanzee: the evolution and future of the human animal.. *^ a b Sharman Apt Russell (2006). Hunger an unnatural ... Chimpanzees are the closest to humans genetically, sharing more than 96% of their DNA code with humans, and their digestive ...
2000). "Human genome search in celiac disease using gliadin cDNA as probe". J. Mol. Biol. 300 (5): 1155-1167. doi:10.1006/jmbi. ... Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.[5][6] ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-45. doi:10.1038/ ...
Over time, many parts of the chloroplast genome were transferred to the nuclear genome of the host,[4][7][26] a process called ... but not human mtDNA).[21] ... 3.1 Chloroplast genome reduction and gene transfer. *3.2 ... Many of the chloroplast's protein complexes consist of subunits from both the chloroplast genome and the host's nuclear genome ... "Genome Biology and Evolution. 10 (10): 2669-2571. doi:10.1093/gbe/evy189. PMC 6166771. PMID 30165616.. ...
U.S. Department of Health & Human Services.. *^ a b c Kaplan YC, Ozsarfati J, Etwel F, Nickel C, Nulman I, Koren G (November ... scientists reported the first genome sequencing of a C. acnes bacteriophage (PA6). The authors proposed applying this research ... U.S. Department of Health and Human Services, Office of Public Health and Science, Office on Women's Health. July 2009. ... Milk and Milk Products in Human Nutrition. Nestle Nutrition Workshop Series. Paediatric Programme. Nestlé Nutrition Institute ...
... sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... "Effects of native human zona pellucida glycoproteins 3 and 4 on acrosome reaction and zona pellucida binding of human ... I. Studies with recombinant human ZPA, ZPB, and ZPC". Fertil. Steril. 83 (6): 1780-90. doi:10.1016/j.fertnstert.2004.12.042. ...
"Genome Research. 13 (10): 2265-70. PMC 403697. . PMID 12975309. doi:10.1101/gr.1293003. الوسيط ,التاريخ=. تم تجاهله (مساعدة); ... Journal of Human Genetics. 52 (8): 664-7. PMID 17603749. doi:10.1007/s10038-007-0166-x. الوسيط ,السنة=. تم تجاهله (مساعدة); ... Journal of Human Genetics. 51 (12): 1068-72. PMID 17024313. doi:10.1007/s10038-006-0065-6. الوسيط ,السنة=. تم تجاهله (مساعدة); ... Human Molecular Genetics. 16 (14): 1676-81. PMID 17517696. doi:10.1093/hmg/ddm115. الوسيط ,التاريخ=. تم تجاهله (مساعدة); الوسيط ...
Human APOC4 genome location and APOC4 gene details page in the UCSC Genome Browser. ... This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. *v ... Apolipoprotein C-IV, also known as apolipoprotein C4, is a protein that in humans is encoded by the APOC4 gene.[5][6] ... "Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.. ...
Human diseaseEdit. Kluyveromyces marxianus is not usually an agent of human disease, although infection in humans can occur in ... the two clades are referred to as pre-Whole Genome Duplication (WGD) and post-WGD. Kluyveromyces species are affiliated with ... two categories are defined based on the presence in certain taxa of a whole-genome duplication event: ...
Aside from humans, octopuses may be preyed on by fishes, seabirds, sea otters, pinnipeds, cetaceans, and other cephalopods.[95] ... Both the structures and editing sites are conserved in the coleoid genome and the mutation rates for the sites are severely ... Octopuses generally avoid humans, but incidents have been verified. For example, a 2.4-metre (8 ft) Pacific octopus, said to be ... More than 60% of RNA transcripts for coleoid brains are recoded by editing, compared to less than 1% for a human or fruit fly. ...
"Mitochondrial genome sequences and the phylogeny of cranes (Gruiformes: Gruidae)". Auk. 127 (2): 440-452. doi:10.1525/auk. ...
Human genome. J. *J1 (Y-DNA). M. *Meselson-Stahl experiment. *Mitochondrial DNA ...
"DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes. 15 (4): 173-183. doi:10.1093/ ... As kōji-kin is a microorganism used to manufacture food, its safety profile with respect to humans and the environment in sake ... "healthy or debilitated humans."[19] Given its safety record in the scientific literature and extensive history of safe use ( ...
A second copy of the tomato gene polygalacturonase was inserted into the tomato genome in the antisense direction.[7] The ... In 1994, the Flavr Savr became the first commercially grown genetically engineered food to be granted a license for human ... "Transgenic tomatoes expressing human beta-amyloid for use as a vaccine against Alzheimer's disease". Biotechnology letters. 30 ... techniques were developed in the late 1980s that could successfully transfer genetic material into the nuclear genome of ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Some whole-genome sequencing studies have shown that PAX8 also targets BRCA1 (carcinogenesis), MAPK pathways (thyroid ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ...
Genome complexity has generally increased since the beginning of the life on Earth.[17][18] Some computer models have suggested ... "Is the human race evolving or devolving?". Scientific American. From a biological perspective, there is no such thing as ... Sharov, Alexei A (2006). "Genome increase as a clock for the origin and evolution of life". Biology Direct. 1 (1): 17. doi: ... Recently work in evolution theory has proposed that by relaxing selection pressure, which typically acts to streamline genomes ...
Belimumab (Benlysta) je monoklonalno antitelo koje je razvila kompanija Ljudske genomske nauke (engl. Human Genome Sciences) ... Tangye SG, Bryant VL, Cuss AK, Good KL (2007). "BAFF, APRIL and human B cell disorders.". Semin. Immunol. 18 (5): 305-17. PMID ...
"Genome Res. 14 (10B): 2121-7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.. CS1 одржавање: Експлицитна употреба et al. ( ... Brzezinski A; Brzezinski, Amnon (1997). „Melatonin in humans". N. Engl. J. Med. 336 (3): 186-95. PMID 8988899. doi:10.1056/ ... 1996). „Cloning of a melatonin-related receptor from human pituitary". FEBS Lett. 386 (2-3): 219-24. PMID 8647286. doi:10.1016/ ... 2003). „Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
"Genome Biology and Evolution. 8 (2): 330-344. doi:10.1093/gbe/evv261. PMC 4779606. PMID 26733575.. ... "Genome Biology and Evolution. 9 (9): 2308-2321. doi:10.1093/gbe/evx168. PMC 5604124. PMID 28934378.. ...
At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ... December 1993). "Human leukocyte antigen A1-B8-DR3-DQ2-DPB1*0401 extended haplotype in autoimmune hepatitis". Hepatology. 18 (6 ... The region between and including B8 and DR3 bears a number of genes of interest in the study of human disease. Most important ... Within 100 generations in humans (about 2100 years in ancient times) one expects a few hundred of these 'blending' events to ...
Humans have 46 chromosomes, which contain all of a persons genes and DNA. Two of these chromosomes, the sex chromosomes, ... From the National Institute of Child Health & Human Development.. *Klinefelter Syndrome []. From the National ...
... observations and analysis about research on the human genome, including a searchable online database of genome variants. ... Human Genome Variation is an open-access, online-only peer-reviewed journal publishing important discoveries, ... Human Genome Variation is delighted to present its first Collection for the March 2019 issue. Coordinated by the Editor-in- ... Human Genome Variation is delighted to present its first Collection for the March 2019 issue. ...
This morning I had a banana genome, an orange genome, two chicken genomes (haploid, of course), and some fried pig genome, on ... At 2 metres in length, the human genome is longer than the average human but it needs to be packaged inside the nucleus of ... This is especially amusing because the human genome isnt quite done. Were primates, too! Why not finish our genome? [I blame ... I got my copy of "A short guide to the human genome" by Stewart Scherer today from Cold Spring Harbor Laboratory Press (2008, ...
The mission of the National Office of Public Health Genomics is to integrate advances in human genetics into public health ... Human Genome Epidemiology Contributors.  alert icon Archived: This Page Is No Longer Being Updated This web page is archived ... Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. ... Human Genetics Center. University of Texas Health Science Center. Houston, Texas. WYLIE BURKE, M.D., Ph.D.. Department of ...
The new draft comes less than three years after the initial draft of the 3 billion letters that comprise human DNA was ... Scientists say the final draft of the human genome sequence is finished. ... Human Genome Map Complete. LONDON - Scientists have completed the finished sequence of the human genome, or genetic blueprint ... Completing the human genome is a vital step on a long road but the eventual health benefits could be phenomenal, Bradley said. ...
Their goal is to figure out the order of all DNA letters (bases) in our genome. ... Many scientists have joined forces on the Human Genome Project. ... in our genome. Since the human genome is more than 3 billion ... Scientists with the Human Genome Project (HGP) study only the human genome. ... Human Genome Project. Important dates: started in the mid-1980s; first draft finished in 2000; completion expected in 2003. Who ...
... originally named the Human Genome Initiative but later known as the Human Genome Project or HGP, began in 1987 and was ... When begun, HGP was dubbed big science comparable to placing human beings on the moon. ... Human Genome Project. The worldwide effort, originally named the Human Genome Initiative but later known as the Human Genome ... Human Genome Project. Definition. The Human Genome Project (HGP) was an international project to sequence the DNA of the human ...
... A very large and comprehensive online genetics resource,displaying information from all aspects of ... If you know the author of Human Genome Archive, please help us out by filling out the form below and clicking Send. ... You just viewed Human Genome Archive. Please take a moment to rate this material. ... genetics today, Human chromosomes, genetic disorders, Genome project and topics of interest. ...
... and the technique could help scientists investigate how the very shape of the genome, and not just its DNA content, affects ... researchers have produced the highest-resolution picture ever of the genomes three-dimensional structure. The picture is one ... By breaking the human genome into millions of pieces and reverse-engineering their arrangement, ... The Human Genome in 3 Dimensions. By breaking the human genome into millions of pieces and reverse-engineering their ...
... and dissemination of population-based data on human genetic variation in health and disease. ... Collaborators in OPHGs Human Genome Epidemiology Network (HuGENet) which helps to translate genetic research findings into ... The Human Genome Project and the need for population-based epidemiologic research. Progress of the Human Genome Project has led ... The Human Genome Epidemiology Network (HuGENet™). It is upon this basis that the vision for the Human Genome Epidemiology ...
... are known to cause distinct types of infections in humans like endocarditis and urinary tract infections (UTI). Surprisingly, ... Draft genome visualization using BRIG. Whole genome circular comparative map of five CNS strains against reference genome S. ... genome size 2273,004 bp), the dark green circle surrounding reference genome signifies the genome of strain 1DB1 and the ... Genome Mining and Comparative Genomic Analysis of Five Coagulase- Negative Staphylococci (CNS) Isolated from Human Colon and ...
1. Human Genome Project. usage: an international study of the entire human genetic material. WordNet 3.0 Copyright © 2006 by ...
See an archive of all human genome sciences stories published on the New York Media network, which includes NYMag, The Cut, ... Say Hello to Chip Skowron III, the Latest Hedge-Funder Charged With Insider Trading [Updated]Over a tip about Human Genome ...
... ... Charting a dynamic DNA methylation landscape of the human genome. Nature 500(7463):477-481. ... The vision of the NIEHS is to use environmental health sciences to understand human disease and improve human health. Use the ... Genome-wide association studies showed that differentially methylated regions often contained single nucleotide polymorphisms ...
The GOP is considering a bill that would give employers the right to force employees to take genetic tests or pay thousands of dollars per year in increased insurance premium costs.. ...
The Future of the Human Genome. What will the next 20 years of research bring? Eric Green, director of the National Human ... EmTech: Illumina Says 228,000 Human Genomes Will Be Sequenced This Year. Record number of genomes being decoded, but cost of ... Reinterpreting the Human Genome. Manolis Kellis helped lead a major effort to map the chemical tags that cells use to get their ... Genome Study Predicts DNA of the Whole of Iceland. Large genome databases are starting to reveal critical health information- ...
The Human Genome Project is unique among scientific projects for having set aside, from the beginning, research support for ... They shared a vision of the future in which knowledge of every gene that composes the human genome would be available to any ... PASADENA- Two of the key inventions that made possible the monumental task of sequencing the human genome came from the ... Coupled with some recent advances, the method remained the core for the just-completed phase of sequencing the human genome. ...
... sequence of Neanderthals reveals the existence of a mysterious human lineage and genetic changes that separate modern humans ...
A profitable quarter for Ford and a round of better-than-expected economic data helped lead stocks higher, though the buying was concentrated in United Technologies, Procter & Gamble and other blue chips.
Human parechovirus 1, complete genome Human parechovirus 1, complete genome. gi,222446109,emb,FM178558.1, ... RefSeq Genome for Species Reference genome or particular genomic segment for the species ... RefSeq Genome Sequences Links from DDBJ/EMBL/GenBank nucleotides or genomic segments to genomic RefSeqs for the same species ...
Human Genome Project results have told us that we have far fewer genes than expected. What other Human Genome Project results ... Now that the Human Genome Project is over, its time for scientists to examine the information produced and pursue related ... For more inform-ation about the Human Genome Project and other related topics like epigenetics, please visit the links on the ... Along with changing how we think about genes, the Human Genome Project spawned lots of other projects. For example, in 2002, ...
Human genome databases are over the hump on the basic technical issues. Assemblies are in decent shape, and annotations of ... The human genome is one year old. That is, if you believe life begins at publication. I thought it would be nice to drop in to ... The human genome is one year old. That is, if you believe life begins at publication. I thought it would be nice to drop in to ...
The human genome can then be compared to other known animal genomes to examine similarities and differences that may be useful ... The Human Genome Project (HGP) is the most exciting breakthrough in human genetics in modern times! Geneticists from around the ... If there is a cancer-inhibiting gene in sharks that could be incorporated into humans with no side effects, another serious ... world collaborated to determine the nucleotide sequence for the complete human genome. This genetic map gives the location of ...
Human Genome Variation. Fig. 1: Graphical views of MGeND.. From: MGeND: an integrated database for Japanese clinical and ...
... and say it gives new insights into differences between the apes and humans -- including their ability to produce competitive ... Scientists have sequenced the genome of the gorilla, the last great ape to have its genes decoded, ... The human genome project was completed in 2003, while the chimpanzee gene map was published in 2005 and the orangutan genome ... They found as expected that humans and chimpanzees are genetically closest to each other over most of the genome, but they ...
DNA from a mastodon tooth bolsters evidence that environmental factors in Africa caused humans and chimps to diverge about 6 ... the newly obtained mitochondrial genome allowed the researchers to calculate how many mutations accumulate in the genome over a ... And the latter two species appear to have split about 6.7 million years ago - roughly around the same time that humans and ... The analysis of a mastodon tooth gives the theory that climate changes in Africa caused the divergence of humans, chimps and ...
... supercomputers that are specifically designed to analyze the data generated by Human Genome Project and various private genomic ... TECHNOLOGY; Supercomputers Track Human Genome. By ANDREW POLLACK. AUG. 28, 2000. Continue reading the main story Share This ... The human genome is comprised of three billion chemical units represented by the letters A, C, T, and G -- a string that would ... Celera must persuade companies to pay for its genomic data when GenBank offers much of the same human genome data free. One way ...
Functional profiling of a human cytomegalovirus genome. Walter Dunn, Cassie Chou, Hong Li, Rong Hai, David Patterson, Viktor ... Functional profiling of a human cytomegalovirus genome. Walter Dunn, Cassie Chou, Hong Li, Rong Hai, David Patterson, Viktor ... Functional profiling of a human cytomegalovirus genome. Walter Dunn, Cassie Chou, Hong Li, Rong Hai, David Patterson, Viktor ... Deletion of the Human Cytomegalovirus US17 Gene Increases the Ratio of Genomes per Infectious Unit and Alters Regulation of ...
Decoding the human genome with deep learning. How can machine learning decode the mysteries of life? Olga Troyanskaya explores ...
Thus vast clandestine laboratory or biotech plant spaces filled with row upon row of blank human bodies kept floating in ... Thus the methods employed by the sinister Replacement Technologies Corporation to clone both animals and humans in The Sixth ... Attention is normally focused on the modus operandi of genetic screening, genetic engineering or human cloning, rather than on ... embryo selection and human cloning have seldom felt constrained by any requirement of verisimilitude in their portrayals of ...
  • They also closed 12 remaining gaps in the reference genome, in highly repetitive sequences where shorter reads won't do the trick. (
  • Baker points out that the nanopore sequence data alone weren't as accurate as other sequencing techniques, compared with the reference genome. (
  • It would be the sequence of a hypothetical genome, a reference genome. (
  • People differ in only one out of 1,000 bases, so that reference genome is 99.9 percent identical to any person's genome. (
  • At the company's workshop, J. Craig Venter, Ph.D., of Human Longevity, Inc. presented data about his highly studied genome, which has now been sequenced using the PacBio RS II and assembled in the cloud on the DNAnexus platform, creating a higher resolution version of this reference genome at a fraction of the original time and cost. (
  • Deanna Church, Ph.D., who has played a key role in the public efforts to create a human reference genome, discussed the importance of having more high-quality de novo human genomes, and Gene Myers, Ph.D., from the Max Planck Institute discussed his work to develop computational methods to enable perfect assemblies using SMRT Sequencing data. (
  • As a result of continual performance improvements with the PacBio RS II, it is now feasible to return to reference-quality de novo human genome assemblies and no longer rely on a single reference genome that does not adequately represent the variation in the global population," said Michael Hunkapiller, Ph.D., CEO of Pacific Biosciences. (
  • In addition, each genome carries on average 0.7 Mb of sequence that is not found in the main build of the hg38 reference genome. (
  • Until recently, genomic research has relied exclusively on the reference genome from a single individual selected to represent an entire species. (
  • Many of these studies have also revealed, however, that there are regions of the human reference genome that are not represented optimally. (
  • At the time the reference genome was completed it was clear that there were some loci recalcitrant to closure with the technology and resources available at that time. (
  • Working with worldwide researchers on the 1000 Genomes Project , Sahinalp says, 'This method compares genomes without first comparing them to a reference genome, so as to better predict genomic variations among closely related individuals, such as between a child and the parents. (
  • First, short pieces from each individual genome are compared with an assembled reference genome, and its structural differences are identified. (
  • The reference genome is a single genome sequenced and put together through the International Human Genome Project, completed in the early 2000s. (
  • In this study, researchers moved away from the conventional approach to enable all genomes to be compared with the reference genome simultaneously, through a combinatorial optimization framework. (
  • This allowed scientists to sequence and analyse hundreds and then thousands of genomes, and by comparing them to the reference genome begin to identify DNA patterns associated with genetic traits or disease. (
  • The total length of the human reference genome, that does not represent the sequence of any specific individual, is over 3 billion base pairs. (
  • A furor developed when researchers working with government money applied for patents on data that merely reports knowledge of what already exists in nature - knowledge of existing DNA sequences - and this led to the 1992 resignation of James Watson (b. 1928) from the directorship of NIH's National Center for Human Genome Research (NCHGR). (
  • With the aid of software that cross-referenced the gene pairs with their known sequences on the genome, they assembled a digital sculpture of the genome. (
  • This includes devising new ways to extract and manipulate information from the human genome sequence and from recently completed genome sequences of important experimental organisms used by scientists in the laboratory, such as the fruit fly, mustard weed, and yeast. (
  • A scientist studying a particular sequence of DNA might search through the entire human genome, as well as those of other animals and bacteria, to find similar sequences. (
  • And speed is of the essence, especially in analyzing data from the publicly financed Human Genome Project, which makes new sequences available each day to everyone at the same time. (
  • But if that hypothetical genome was made up of bits and pieces of DNA sequences from lots of different people, what good was it? (
  • Now, with all the great ape sequences complete, scientists can better use genetics to help determine if a particular trait cropped up for the first time in humans, said Kay Pruefer, a postdoctoral researcher at the Max Planck Institute in Leipzig, Germany. (
  • So genomes have ways of keeping these wandering sequences under control. (
  • ENCODE, which started in 2003, aims to catalog the 'functional' DNA sequences between genes , learn when and in which cells they are active and trace their effects on how the genome is packaged, regulated and read. (
  • The assimilation of viral sequences into the host genome is a process referred to as endogenization. (
  • They searched the 234 known eukaryotic genomes for sequences similar to that of BDV. (
  • Ab initio annotation of sequences in Human genome draft: (49171 Genes and 282378 exons) The nucleotide sequence of nearly 90% of the Human genome (3 GB) has been determined in worldwide sequencing community. (
  • Now, dozens of genome sequences later, the sequencers haven't a clue of how to make the smallest bacterium or the simplest worm, let alone a human being. (
  • Many of these regions in the genome, particularly the structural variant loci, are often associated with repetitive sequences. (
  • In order to achieve this, we have generated ~100X whole genome shotgun sequence as Illumina paired end data, as well as over 450 BAC sequences from the CHM1 libraries. (
  • The whole genome data has been assembled using a reference-guided assembly and the finished BAC sequences have been incorporated into this assembly. (
  • In 1992, Watson resigned over a controversy surrounding the patenting of human sequences. (
  • Repeat sequences are common in the human genome. (
  • Upcoming versions of the app will provide access to genome sequences of over three dozen non-human species, including dogs, cats, mice, chimpanzees, elephants, and 11 species of fruit fly, plus further improvements in the touch interface. (
  • San Francisco, CA - Since the classical studies of Jacob and Monod in the early 1960s, it has been evident that genome sequences contain not only blueprints for genes and the proteins that they encode, but also the instructions for a coordinated regulatory program that governs when, where and to what extent these genes and proteins are expressed. (
  • recently published in PNAS (July 27, 2015) provides a new perspective on the role that RTE-derived sequences play in the precise execution of the human genome's regulatory program. (
  • Boundary elements are epigenetic regulatory sequences that separate transcriptionally active regions of the human genome from transcriptionally silent regions in a cell-type specific manner. (
  • The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. (
  • Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA genes, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been determined. (
  • The first human genome sequences were published in nearly complete draft form in February 2001 by the Human Genome Project and Celera Corporation. (
  • LONDON - Scientists have completed the finished sequence of the human genome, or genetic blueprint of life, which holds the keys to transforming medicine and understanding disease. (
  • New treatments, customized drugs to individual genetic profiles and earlier diagnosis of disease are expected to be among the initial benefits of the human genome sequencing. (
  • Scientists have already identified more than 1.4 million SNPS, or single nucleotide polymorphisms - variations in the three billion letters of the human genetic code. (
  • By looking at different subsets of the genome of several people and comparing the results, scientists hope to identify specific DNA variations that cause propensity for a certain disease as well as its genetic basis. (
  • A very large and comprehensive online genetics resource,displaying information from all aspects of genetics today, Human chromosomes, genetic disorders, Genome project and topics of interest. (
  • Progress of the Human Genome Project has led to an explosion of genetic information (1). (
  • Given the paucity of population-based epidemiologic data regarding the frequency, disease risks and environmental interactions for many newly discovered human gene variants, we are concerned that appropriate health policy on the use of genetic tests may not be possible. (
  • Here we use the term human genome epidemiology (HuGE) to denote an evolving field of inquiry that uses systematic applications of epidemiologic methods and approaches in population-based studies of the impact of human genetic variation on health and disease. (
  • We view human genome epidemiology as the intersection between molecular epidemiology and genetic epidemiology. (
  • The spectrum of topics addressed by investigators working on human genome epidemiology ( Table 1 ) ranges from population-based epidemiologic research on gene variants to evaluation of genetic tests and services. (
  • This genetic map gives the location of each of the approximately 100,000 human genes composed of roughly 3 billion nucleotides. (
  • The human genome can then be compared to other known animal genomes to examine similarities and differences that may be useful in the creation of new genetic recombinations. (
  • It is estimated that there are more than 3,000 human genetic disorders! (
  • The team searched more than 11,000 genes in human, chimpanzee and gorilla for genetic changes important in evolution. (
  • The first wave of information from the analysis of the human genome revealed SNPs to be the main source of genetic and phenotypic human variation. (
  • Genetic engineering can provide a range of benefits for people, for example, increasing the productivity of food plants or preventing diseases in humans. (
  • Following the completion of the Human Genome Project, NHGRI has moved into areas of genetic and genomic research aimed at improving human health and fighting disease. (
  • This research group uses genome variation analysis to identify the genetic causes of rare disorders in order to design appropriate diagnostics and cures. (
  • While scientists have identified hundreds of genetic variations linked to risk of specific diseases, the meaning of the vast majority of the genome is still unknown. (
  • Whole-genome sequencing captures a much higher volume of genetic information, as well as additional types of genetic variation, such as deletions and duplications of segments of the genome. (
  • On April 14, 2003, a decade ago this week, scientists announced that they had completed the Human Genome Project, compiling a list of the three billion letters of genetic code that make up what they considered to be a sort of everyperson's DNA. (
  • Jonas Korlach, Ph.D., Chief Scientific Officer of Pacific Biosciences, added: "We are excited to see how our customers are using SMRT Sequencing for an increasing number of important human and other complex genome studies, including characterizing variation beyond SNPs, developing population-specific genome references, and resolving the genetic basis of disease. (
  • The hope of modern human genetics is to identify the genetic component of common diseases affecting mankind such as hypertension, heart disease, strokes, the dementias and autoimmune diseases. (
  • Mapping of the human genome over the last decade has identified the genetic mutations that cause many simple genetic diseases such as cystic fibrosis and a small percentage of cancers, such as some breast and bowel cancers. (
  • Over the past 20 years the human genome project has produced a series of tools for the study of genetic diseases. (
  • Dr. Jenkins will continue NHGRI's mission of educating health professionals and the public about the role of genetic medicine in the clinic, as well as the health and societal implications of the Human Genome Project. (
  • The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. (
  • This afternoon, Harvard University will launch a program designed to advance genome research by having volunteers post their genetic information and medical history online so researchers can access them easily. (
  • Following the completion of the Human Genome Project, it became apparent that the genome experiences gains and losses of genetic material. (
  • Researchers with the U.S. Department of Energy (DOE)'s Lawrence Berkeley National Laboratory (Berkeley Lab) have achieved a major advance in understanding how genetic information is transcribed from DNA to RNA by providing the first step-by-step look at the biomolecular machinery that reads the human genome. (
  • Most human diseases have a genetic component. (
  • Michel Georges will tell you about the structural organisation of the human genome, the mechanisms contributing to the genome variability, the main types of genetic variation (SNPs, CNVs, aneuploidy, etc.), and differences between alleles and genotypes. (
  • You will also learn the techniques used to detect different types of variations in human genome and you will find out how we can follow the inheritance of genetic material through generations. (
  • Almost any human disorder has a genetic component in it. (
  • But for now, Pruefer said, it remains unclear what genetic differences between humans, chimps and bonobos have any bearing on human traits. (
  • The Human Genome Project, which had as its primary goal the sequencing of the 3 billion DNA letters that make up the human genetic instruction book, was successfully completed in April 2003. (
  • About eight percent of human genetic material comes from a virus and not from our ancestors - and could be causing mutations and psychiatric disorders such as schizophrenia. (
  • Heads of government and Nobel laureates came together to hail the arrival of a 'working draft' of the human genome: the set of genetic instructions which governs the assembly and function of all human beings. (
  • At Harvard today , an invitation-only group of about 150 scientists, lawyers, and entrepreneurs, met to discuss if and how to construct from scratch an entire human genome - the heritable genetic material that in nature is transferred from parents to children. (
  • The wonderful diversity of the human species is not hard-wired in our genetic code. (
  • Craig Venter may have just discovered that genetic determinism cannot deliver the goods, after sequencing the human genome. (
  • But many of us knew that genetic determinism had died with the revelations of the fluid genome, if not before [3]. (
  • It is also fuelling the resurgence of eugenics and genetic discrimination, and making even the most unethical uses seem compelling, such as the creation of human embryos to supply cells and tissues for transplant in so-called 'therapeutic' human cloning [4]. (
  • I started my career in human biochemical genetics, studying genuine genetic diseases that could be attributed to mutations in single genes. (
  • Once the genome is better understood, scientists will be able to develop genetic treatments for diseases like cancer and Alzheimer's. (
  • The sequencing of genetic model organisms, in addition to the human genome, was another of the goals of the NHGRI. (
  • We'll kick off by discussing the Human Genome Project, the massive scientific collaboration that mapped out the sequence of all our genetic material. (
  • Now, genome-wide association studies can analyze massive amounts of data, searching for genetic variations that are associated with particular diseases. (
  • A new technology called CRISPR could allow scientists to alter the human genetic code for generations. (
  • It's not new that scientists can manipulate human DNA - genetic engineering, or gene editing, has been around for decades. (
  • Basically, that means making genetic changes in a human egg, sperm or embryo. (
  • The vast majority of the human genome (~98% of the total genetic information) is not dedicated to encoding proteins, and this non-coding sequence was initially designated as "junk DNA" to underscore its lack of apparent function. (
  • Many of the genetic changes Pritchard's group detected came during or after the emergence of agriculture, beginning about 10,000 years ago, and long after the formation of modern human populations. (
  • Using newly available data, the scientists conducted a genome-wide scan for genetic variants showing evidence of recent selection in European, Asian, and African populations. (
  • The findings, along with other recent studies, begin to provide a kind of genetic narrative of recent human evolution. (
  • For instance, genetic drift will cause regions of LD randomly distributed across the entire genome. (
  • This first genetic blueprint of a human being remains one of humanity's most important scientific endeavours, laying the foundation for revolutions in genomics, biology and medicine. (
  • The Human Genome Project has already aided scientists in discovering a mutation that causes a deadly type of skin cancer and accelerated the search for genes involved in diabetes, leukemia and childhood eczema. (
  • Scientists in the United States, France, Germany, Japan and China have also worked on the publicly funded Human Genome Project. (
  • Many scientists have joined forces on the Human Genome Project. (
  • So, to get a complete picture of our species' DNA, you might think that the Human Genome Project scientists have to study the DNA of millions of people -- not even close! (
  • Whose genome was selected for this important project? (
  • The results of the Human Genome Project are published on the Internet. (
  • Scientists with the Human Genome Project (HGP) study only the human genome. (
  • The worldwide effort, originally named the Human Genome Initiative but later known as the Human Genome Project or HGP, began in 1987 and was celebrated as complete in 2001. (
  • Given the massive amount of population-based data that will be generated over the next decades, we believe a coordinated global effort is needed to disseminate human genome epidemiologic information in order to keep up with the progress of the Human Genome Project and its accompanying gene discoveries. (
  • However, there is one issue that the authors agree upon and strongly advocate: the critical role of population-based studies in translating findings of the Human Genome Project into applications for medicine and public health. (
  • This method revolutionized DNA sequencing, ultimately making it possible to launch the Human Genome Project. (
  • A second key invention for the genome project was developed at Caltech by Professor Melvin Simon, chair of Caltech's biology division, and his coworker Hiroaki Shizuya. (
  • These BACs provided the major input DNA for both the public genome project and Celera. (
  • Caltech researchers, both current and past, have also been important in promoting the Human Genome Project itself-a project that originally met with scientific skepticism when it was born 12 years ago, particularly when the goal of a fully sequenced human genome by the year 2003 was announced. (
  • David Baltimore, president of Caltech and a Nobel laureate for his work on the genes of viruses, was a highly influential supporter of the Human Genome Project at its inception. (
  • To shape this unprecedented and complex project, Caltech professors Norman Davidson, Barbara Wold, and Steve Koonin have served in national scientific advisory roles to the genome project in the intervening years. (
  • Also, Baltimore chaired the National Institutes of Health (NIH) meeting where the human genome project was launched. (
  • The Human Genome Project is unique among scientific projects for having set aside, from the beginning, research support for studies of the ethical, legal, and social implications of the new knowledge of human genes that would result. (
  • In Caltech's Division of the Humanities and Social Sciences, Professor Daniel Kevles has examined these ethical issues in his book The Code of Codes: Scientific and Social Issues in the Human Genome Project, which he coedited in 1992 with Leroy Hood. (
  • What have we learned from the Human Genome Project? (
  • Now that the Human Genome Project is over, it's time for scientists to examine the information produced and pursue related research. (
  • Along with changing how we think about genes, the Human Genome Project spawned lots of other projects. (
  • For more inform-ation about the Human Genome Project and other related topics like epigenetics, please visit the links on the next page. (
  • The Human Genome Project (HGP) is the most exciting breakthrough in human genetics in modern times! (
  • The human genome project was completed in 2003, while the chimpanzee gene map was published in 2005 and the orangutan genome was completed in 2011. (
  • The machines are being snapped up to sift the blizzard of data being generated by the Human Genome Project and various private genomics efforts. (
  • After the genome was sequenced, another major project was launched to try to understand which bits of the genome do what. (
  • Scientists working on the ENCODE project, which sought to delve deeper into DNA function, were able to show that there are millions of DNA segments in the genome that are involved in turning the 20,000 genes in the human genome on and off, Stamatoyannopoulos said. (
  • A five-year project called ENCODE, for "Encyclopedia of DNA Elements," found that about 80 percent of the human genome is biologically active, influencing how nearby genes are expressed and in which types of cells. (
  • The project will rewrite the textbooks, turning the architectural blueprint of the human genome into a control schematic and instruction manual that explains how genes turn on and off. (
  • Doctor Francis Collins, the director of the Human Genome Project at the National Institutes of Health. (
  • Dr. Francis Collins, the director of the Human Genome Project. (
  • The original Human Genome Project sequenced just one representation, three billion bases. (
  • Using newly-collected data on the sequencing of the human genome by the public Human Genome Project and the private firm Celera, this paper estimates the impact of Celera's gene-level IP on subsequent scientific research and product development. (
  • To highlight the importance of population-specific reference genomes, Jeong-Sun Seo, M.D., Ph.D., of the Seoul National University College of Medicine and co-founder of Macrogen, Inc. discussed progress with the Asian Genome Project, which is also using the PacBio RS II for de novo genome assembly of Asian subpopulations. (
  • This diagram illustrates a chromosome in ever-greater detail, as the ENCODE project drilled down to DNA to study the functional elements of the genome. (
  • The human genome-the sum total of hereditary information in a person-contains a lot more than the protein-coding genes teenagers learn about in school, a massive international project has found. (
  • Now a U.S.-funded project, called the Encyclopedia of DNA Elements (ENCODE), has found that many of these bases do, nevertheless, play a role in human biology: They help determine when a gene is turned on or off, for example. (
  • The National Human Genome Research Institute said today it has made several key personnel changes, including the appointment of a new scientific director to run its intramural research program, a new director for the extramural program that oversaw the Human Genome Project and new advisors in the Office of the Director. (
  • He will also expand relationships with pharmaceutical and biotech companies, and focus on translating the genomic data produced through the Human Genome Project into new therapeutic strategies. (
  • Following 5 years of work there on projects involving the International Human Genome Project, he returned to Canada in the fall of 1999 to join BC's Genome Sequence Centre. (
  • The group of ten volunteers, many of them well-known researchers, had their DNA studied by the Personal Genome Project. (
  • Dr. Francis S. Collins, director of the National Institutes of Health, is noted for his landmark discoveries of disease genes and his visionary leadership of the Human Genome Project, a complex multidisciplinary scientific enterprise directed at mapping and sequencing human DNA. (
  • An international scientific research project with the goal of determining and decoding the total sequence of human DNA. (
  • Proponents of the effort, named 'Human Genome Project-write' (HGP-write), wrote in the journal Science that $100 million from a range of funding sources would help get their vision off the ground. (
  • And others think the project should be delayed until its leaders can win broader support for the idea of synthesizing a human genome. (
  • The whole project should require less than $3 billion (the price of the publicly funded Human Genome Project), they say. (
  • If you want to do this, it's going to be on the same scale as the Human Genome Project, it's going to need some big funding agencies and hundreds and hundreds of researchers around the world. (
  • Ellis and others worry that a centralized project that explicitly focuses on building a synthetic version of a human genome - rather than many kinds of genomes - might needlessly narrow the products of the effort. (
  • The National Human Genome Research Institute (NHGRI) was established originally as the National Center for Human Genome Research in 1989 to lead the International Human Genome Project. (
  • Since completion of the Human Genome Project, NHGRI has funded and conducted research to uncover the role that the genome plays in human health and disease. (
  • 1988 - NIH Director James Wyngaarden, M.D., assembles scientists, administrators, and science policy experts in Reston, Virginia, to lay out an NIH plan for the Human Genome Project. (
  • 1989 - The NIH-DOE Ethical, Legal and Social Implications (ELSI) working group is created to explore and propose options for the development of the ELSI component of the Human Genome Project. (
  • 1989 - The National Center for Human Genome Research (NCHGR) is established to carry out the NIH's component of the Human Genome Project. (
  • 1990 - The first five-year plan with specific goals for the Human Genome Project is published. (
  • The NIH plans to expand its Encyclopedia of DNA Elements (ENCODE) Project, a genomics resource used by many scientists to study human health and disease. (
  • Funded by the National Human Genome Research Institute (NHGRI), part of NIH, the ENCODE Project is generating a catalog of all the genes and regulatory elements-the parts of the genome that control whether genes are active or not-in humans and select model organisms. (
  • Building on a successful three-year pilot project, the NIH has awarded more than $64 million to six research institutions to create a database of human cellular responses, the Library of Integrated Network-based Cellular Signatures (LINCS). (
  • The project was designed to pick up where the Human Genome Project left off. (
  • This was amply demonstrated by the fact that Francis Collins, director of the National Human Genome Research Institute near Washington DC and head of the Human Genome Project, was not the only person standing next to Clinton on Monday. (
  • With the publication of the results of the human genome project, we stand on the threshold of such a breakthrough. (
  • The discoveries made by the Human Genome Project have dramatically confirmed the position of Marxism, as expounded in Reason in Revolt six years ago. (
  • Research team leaders from the rival camps working on the project - the private research group Celera and the publicly funded Human Genome Project - jointly announced at a Washington, D.C. press conference they have completed a rough draft of the genome that will eventually revolutionize medicine. (
  • The databases created by Celera and the Human Genome Project will aid in that research by improving data search mechanisms. (
  • The Human Genome Project allows free access to its continuously updated Internet database. (
  • The human genome has already been the subject of extensive research activity even though the Human Genome Project is only just officially starting. (
  • What is the Human Genome Project? (
  • The Human Genome Project will have a profound effect in the twenty-first century, providing the means to identify disease-causing mutations (including those involved in cancer), to design new drugs, to provide human gene therapy, to learn how genes control development, and to understand the origins and evolution of the human race. (
  • The Human Genome Project (HGP) began as a result of the catastrophic events of World War II: the dropping of atomic bombs on the Japanese cities of Nagasaki and Hiroshima. (
  • With impetus from the DOE and the National Research Council, the Human Genome Project was launched in 1990 with James Watson as head. (
  • The goal of this project was to completely sequence the human genome of three billion base pairs by 2005 at a cost of $1.00 per base pair. (
  • When we first heard about the Human Genome Project, we were seriously alarmed. (
  • And just to prove these 'Human Genome Project' eggheads don't comprehend what they're doing, it's pronounced 'NOME. (
  • Founded in 2015, GMI earlier this year announced it was to partner with AbbVie and global contract genomics organisation WuXi NextCODE on a 15-year project to sequence 45,000 genomes from volunteer participants across Ireland, to seek new insights into the biological processes that underlie complex diseases. (
  • 26 June 2020 marks 20 years since the Human Genome Project completed the first draft of the human genome and made it freely available to the world. (
  • The Wellcome Sanger Institute continues to push the boundaries of genomics, with projects like the Human Cell Atlas , Cancer Dependency Map and Darwin Tree of Life Project . (
  • While the Human Genome Project was working towards the first draft, a private company named Celera Genomics* was working to get there first - planning to patent genes and only release the data to paying customers. (
  • There was an incredible sense of collaboration and cooperation on the Human Genome Project that I think has carried through to the way science is done today. (
  • A major new initiative, the Earth Biogenome Project, is working to sequence the genomes of all complex species across the globe. (
  • The Human Genome Project changed the face of biology and medicine forever. (
  • Although the 'completion' of the human genome project was announced in 2001, there remained hundreds of gaps, with about 5-10% of the total sequence remaining undetermined. (
  • HUGO represents an international coordinating scientific body in response to initiatives such as the Human Genome Project. (
  • Collins drew twenty laboratories worldwide with hundreds of researchers into the International Human Genome Sequencing Consortium, which he directed from his Washington office. (
  • By breaking the human genome into millions of pieces and reverse-engineering their arrangement, researchers have produced the highest-resolution picture ever of the genome's three-dimensional structure. (
  • It still provided the most persuasive evidence to date that genome shape matters, even though the researchers' chromosome map was relatively low-resolution. (
  • To determine genome structure without being able to directly see it, the researchers first soaked cell nuclei in formaldehyde, which interacts with DNA like glue. (
  • By studying the pairs, the researchers could tell which genes had been near each other in the original genome. (
  • These researchers are presently using genomic information to create an "onco-chip," which will give researchers convenient experimental access to a miniature array containing hundreds of BACs, each carrying a gene whose mutation can cause human cancer. (
  • Some researchers are now looking at the 99 or so percent of DNA that aren't genes, wondering if these previously neglected chunks of the genome have significant roles to play. (
  • In all three species, genes relating to sensory perception, hearing and brain development showed accelerated evolution, the researchers said, particularly in humans and gorillas. (
  • Since the fossil record suggests mastodons diverged from these animals about 26 million years ago, the newly obtained mitochondrial genome allowed the researchers to calculate how many mutations accumulate in the genome over a given amount of time - providing them with a sort of ticking evolutionary clock. (
  • Judging by the number of differences between the various genomes, researchers believe that African elephants diverged from Asian elephants and mammoths about 7.6 million years ago. (
  • For the first time, researchers using a nanopore sequencer have assembled a human genome using ultra long reads. (
  • More than 400 researchers conducted upwards of 1,600 experiments with 150 types of human tissue in the past five years to untangle all this activity. (
  • Retrieved on February 21, 2020 from (
  • When researchers decided to sequence the human genome in the late 1990s, they were focused on finding those traditional genes so as to identify all the proteins necessary for life. (
  • About 80% of the genome is biochemically active , ENCODE's 442 researchers report today in Nature . (
  • Researchers have assembled the complete genome of the bonobo, an African ape that is one of humans' closest relatives. (
  • That should help researchers better understand how humans evolved, scientists said. (
  • With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. (
  • Researchers collected visual data about the movement of nucleosomes in living human cells and used the information to. (
  • Mathematical analysis has led researchers in Japan to a formula that can describe the movement of DNA inside living human cells. (
  • Using these calculations, researchers may be able to reveal the 3D architecture of the human genome. (
  • Researchers labeled the nucleosomes with fluorescent tags and took microscopy images during the growth phase of human cells. (
  • A model to visualize how chromatin is packed within the cell could allow researchers to understand which genes are accessed most or least often and how the genome is physically organized. (
  • The awards will fund researchers at interdisciplinary centers through the National Human Genome Research Institute 's (NHGRI) Centers of Excellence in Ethical, Legal and Social Implications Research (CEER) program. (
  • Researchers analyzing human, fly, and worm genomes have found that these species have a number of key genomic processes in common, reflecting their shared ancestry. (
  • Science Insider reports that US National Institutes of Health researchers were told in the fall they could not obtain new human fetal tissue. (
  • Researchers could identify in its 3 billion letters many of the regions that code for proteins, but those make up little more than 1% of the genome, contained in around 20,000 genes. (
  • It has been three years since University of California, Santa Cruz (UCSC), researchers proved that long-read human genome assembly can be done, using a nanopore-based technology developed on campus. (
  • Now, UCSC researchers have collaborated on an algorithm designed to accurately and precisely assemble individual, complete human genomes from long-read sequencing data in about six hours and for about $70. (
  • To enable rapid human genome assembly, the researchers developed Shasta, a de novo long-read assembler, and polishing algorithms named MarginPolish and HELEN. (
  • The researchers assessed the precision and then validated the accuracy, and noted that they had achieved 99.9% accurate assembly using only nanopore data, a first for the human genome. (
  • The final enzyme, Tre, removed all traces of HIV from cultured human cervical cells after about three months, the researchers report online today in Science. (
  • Researchers also reported that each human gene can make two proteins or more, upsetting the long-held notion that one gene makes one protein. (
  • Researchers have used HumanNet to evaluate genome-wide association study (GWAS) data to analyze polygenic diseases, in which many genes contribute to small and unequal degrees to an illness. (
  • With this app, researchers can now access genomic data from anywhere with minimal effort, and they can immediately explore the genome visually by using the intuitive screen touches and gestures that have made the iPad® platform so powerful," he added. (
  • Researchers who helped develop powerful techniques warn that tweaking the genome is now easy. (
  • This week, groups that include the University of California's Jennifer Doudna , one of the researchers who developed CRISPR, essentially called for a moratorium on any attempt to do modification of the human germline using these techniques - at least until there's been more time for public discussion and more research to understand how well it works and how safe it is. (
  • Researchers in Simon Fraser University's Computational Biology lab have produced a new method of carrying out human genome comparisons that may help scientists and health care professionals predict the likelihood of conditions such as autism and mental retardation. (
  • Genome researchers at the University of Chicago have identified more than 700 regions in human DNA where apparently strong selection has occurred, driving the spread of genes linked to a broad range of characteristics. (
  • NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human biology, genetics, and common diseases to help prevent disease and improve human health. (
  • Illumina, a genomics technology company headquartered in San Diego, announced the launch of a $48,000 genome-sequencing service at the Consumer Genetics Conference in Boston on Wednesday. (
  • Written for the non-majors human genetics course, Human Genetics, 3E will increase the genetics knowledge of students who are learning about human genetics for the first time. (
  • New special features boxes make connections between human genetics and human health and disease. (
  • She is widely known for her research on inherited eye diseases and has published numerous chapters and research articles focused on human genetics. (
  • Last Wednesday, at "Career Night" during the American Society of Human Genetics annual conference in Baltimore, I was stationed one table over from Robert Steiner, MD, from the Marshfield Clinic Research Foundation in Wisconsin. (
  • There are now over 50 different regions of the genome that carry versions of genes that contribute to the genetics of this disease. (
  • Human genetics explores the genetically determined similarities and differences between human beings. (
  • Study of human genetics can help to find answers to questions regarding the inheritance and development of different human phenotypes. (
  • I was researcher and lecturer in genetics throughout the mid-1970s to the early 1980s when new discoveries on the fluid genome made headlines every week, overturning the most deeply held convictions of classical genetics. (
  • The biggest impact is that we're going to move quickly from the bench to using computer applications in studying this data," said Dr. Harry Orr, human genetics director. (
  • It was fitting then, that fifty years later, in April of 2003, the complete sequence of the human genome was published, marking probably one of the greatest achievements in not only genetics but also all of science. (
  • Dr. Itan works in the lab of Jean-Laurent Casanova , MD, PhD, at the St. Giles Laboratory of Human Genetics of Infectious Diseases. (
  • The Society runs two themed meetings each year as satellites to either the American or European Societies of Human Genetics annual meeting as a forum for scientists to exchange ideas and form collaborations. (
  • Joshua Akey, a genetics researcher at the University of Washington in Seattle, says selection-driven changes recorded in the genome provide tantalizing clues about past challenges faced by humans. (
  • One such way AbbVie and Sullivan are figuring that out is with the recent collaboration with Genomics Medicine Ireland (GMI), an Irish life sciences company leading large-scale, population-based genome research studies on the island of Ireland, examining the relationship between genetics, health and disease. (
  • Now, we have data scientists, bioinformationists and computational biologists, all of whom are helping us look at the enormous amounts of data we're generating from these human genetics collaborations as well as our own internal work. (
  • In partnership with geneticist Yuan-Tsong Chen and Alice Der-Shan Chen, founders of the Chen Foundation, HUGO presents the Chen Award to those with research accomplishments in human genetics and genomics in Asia Pacific. (
  • It gives them something to work with and get going, but the aim was always to generate a reference sequence for the human genome,' said Dr Jane Rogers, head of sequencing at the Wellcome Trust Sanger Institute. (
  • By 1998 Venter had established Celera Genomics with sequencing capacity fifty times greater than TIGR, and by June 17, 2000, he concluded a ninety percent complete account of the human genome. (
  • But this wasn't easy to study: Sequencing the genome destroys its shape, and electron microscopes can barely penetrate its active surface. (
  • Record number of genomes being decoded, but cost of DNA sequencing might not fall much further, says Illumina president. (
  • Sequencing the microörganisms that inhabit healthy people could aid research into human disease. (
  • PASADENA- Two of the key inventions that made possible the monumental task of sequencing the human genome came from the California Institute of Technology. (
  • These were especially important in the sequencing of the 3 billion DNA base pairs composing the human genome because the inventions speeded up progress on the task. (
  • Coupled with some recent advances, the method remained the core for the just-completed phase of sequencing the human genome. (
  • The Simon research group was also a major contributor to the mapping and sequencing of chromosome 22-a substantial segment of the human genome, which was completed in 1999. (
  • The National Human Genome Research Institute led the US contribution to the sequencing of the human genome. (
  • A new sequencing service aims to take whole-genome sequencing mainstream. (
  • It won't be the first consumer genome service- Knome , a startup in Cambridge, MA, already offers genome sequencing for just under $100,000-but Illumina is the first company preparing to offer high-volume personal-genome sequencing. (
  • Knome, which uses Illumina technology to perform its sequencing, is a boutique service that offers both genome analysis and interpretation. (
  • Unlike most consumer-genomics companies, which offer tests directly through the Internet, Illumina's genome-sequencing service will require a physician's prescription. (
  • It's the analysis of the genome rather than the sequencing itself that is proving to be the most difficult aspect of personalized genomic medicine. (
  • MENLO PARK, Calif., March 2, 2015 (GLOBE NEWSWIRE) -- Pacific Biosciences of California, Inc., (Nasdaq:PACB) provider of the PacBio ® RS II Sequencing System, today announced that its Single Molecule, Real-Time (SMRT ® ) Sequencing was featured in a number of presentations during last week's Advances in Genome Biology & Technology (AGBT) conference, including demonstrations of the technology's ability to create reference-quality de novo human genome assemblies. (
  • With the performance improvements planned for this year, we expect the cost to generate a human genome on the PacBio RS II to drop to around $10,000, which is not a high premium to pay for the superior quality and completeness that SMRT Sequencing provides. (
  • Evan Eichler, Ph.D., from the University of Washington presented more data about his work on characterizing complex variation in the human genome using SMRT Sequencing. (
  • In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. (
  • Marra's interest was solidified in 1994 by a postdoctoral fellowship at Washington University in St. Louis, then site of the largest genome sequencing centre in the US. (
  • This includes deep coverage and sequencing accuracy of an individual's genome. (
  • Our work represents the largest effort to date in sequencing human genomes at deep coverage with these new standards. (
  • We conclude that high-coverage genome sequencing provides accurate detail on human variation for discovery and clinical applications. (
  • We report on the sequencing of 10,545 human genomes at 30×-40× coverage with an emphasis on quality metrics and novel variant and sequence discovery. (
  • These results indicate that the data generated by deep genome sequencing is of the quality necessary for clinical use. (
  • Bonobos: A headline on an article in the June 14 Section A about the sequencing of the bonobo genome referred to the African ape as a human ancestor. (
  • The idea was that gene sequencing would become so cheap-on the order of $1,000-that ordinary people could afford to have their individual genomes sequenced, which their family doctors would use to diagnose their predisposition for disease. (
  • All the analysts and pundits were saying that genome sequencing was dead, there's no use for it anymore-the human genome has been sequenced. (
  • If genome sequencing is going to have true medical impact, it needs to get up to [a higher] diagnostic quality level. (
  • You can buy any two company's machines right now, and if we sequencing a genome with two different technologies we'd get two different answers. (
  • They don't do true sequencing, they just measure a tiny portion of the genome . (
  • The grants, which total approximately $14.5 million to eight research teams over two to four years as funds become available, are the last to be awarded by the Advanced DNA Sequencing Technology program of the National Human Genome Research Institute (NHGRI), a part of NIH. (
  • Although short read sequencing serves an important purpose in both the research and clinical arenas of genomic analysis, it is difficult to rely on short reads for some interrogations, such as structural variations (SVs) including large indels and base-level resolved copy number variations, to resolve phasing relationships or to generate highly contiguous de novo genome assemblies. (
  • The work is published in an article titled, " Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes " in Nature Biotechnology . (
  • They developed a nanopore long-read sequencing protocol that consistently yields ~60X coverage (~200 gigabases) of a human genome at unprecedented lengths (median read N50 of 42 kb) using three PromethION flow cells. (
  • At the President's other shoulder was Craig Venter, the maverick gene entrepreneur who two years ago formed the sequencing company Celera Genomics and set out to be the first to sequence the human genome. (
  • By 1977, Walter Gilbert and Frederick Sanger had independently developed methods for sequencing DNA, and in 1977, Sanger's group published the sequence of the first genome, the small bacterial virus Phi X174. (
  • In 1985 a conference of leading scientists was held at the University of California, Santa Cruz, to discuss the feasibility of sequencing the entire human genome. (
  • Dr. Itan sees the human gene connectome as not just a research tool, but as a way to cut through the needle-in-a-haystack situation that clinical sequencing in today's early guise can impose. (
  • Whole genome sequencing is now part of clinical care in the NHS, helping to inform diagnosis and treatment for rare diseases, cancer and most recently SARS-CoV-2. (
  • With the arrival of Next Generation Sequencing (NGS) in 2007, the time and money required to sequence a human genome began to fall dramatically. (
  • Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. (
  • Completion of the Human Genome Project's sequencing effort was announced in 2004 with the publication of a draft genome sequence, leaving just 341 gaps in the sequence, representing highly-repetitive and other DNA that could not be sequenced with the technology available at the time. (
  • The human genome was the first of all vertebrates to be sequenced to such near-completion, and as of 2018, the diploid genomes of over a million individual humans had been determined using next-generation sequencing. (
  • HUGO was established at the first meeting on genome mapping and sequencing at Cold Spring Harbor in 1988. (
  • External research guidance and advice related to NHGRI grants comes from the National Advisory Council for Human Genome Research, which meets three times a year in Rockville, Maryland. (
  • Francis Collins took over as head of the HGP at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH). (
  • The segregation of active and inactive genes adds to evidence that genome structure affects gene function. (
  • They shared a vision of the future in which knowledge of every gene that composes the human genome would be available to any scientist in the world at the click of a computer key. (
  • If there is a cancer-inhibiting gene in sharks that could be incorporated into humans with no side effects, another serious health concern could be avoided. (
  • While confirming that our closest relative is the chimpanzee, the research also shows that around 15 percent of the human gene map resembles the gorilla more closely than it does the chimpanzee genome. (
  • The team used DNA from a western lowland gorilla, named Kamilah, to assemble a gorilla genome sequence and then compared it with the gene maps of the other great apes. (
  • Genomic analysis of the HCMV AD169 strain genome and comparative analysis of other related herpesvirus genomes, combined with biochemical and functional studies, have led to the prediction of numerous viral ORFs and provided some insight into HCMV gene function ( 6 - 11 ). (
  • Here, the authors phased the entire major histocompatibility complex (MHC) region, one of the most gene-dense and highly variable regions of the genome. (
  • Past efforts to figure out the puzzle of how DNA in the genome caused disease had focused on hundreds of genome-wide association studies, which screened genomes of people with particular medical conditions to determine DNA variants linked to those diseases, said University of Washington genome scientist Dr. John Stamatoyannopoulos, lead author of a study examining the connection between gene regulation and disease published Wednesday in the journal Science . (
  • Stamatoyannopoulos and his coauthors compared the gene regulation data from ENCODE and other projects with the associations uncovered in genome-wide association studies, looking to see when common variants were located in regulatory regions of the genome. (
  • For instance, the team discovered that one variant that had been associated in genome-wide studies with platelet count was actually part of the regulatory DNA that helps control a distant gene involved in platelet production. (
  • Taking cues from global positioning satellites, Yuval Itan, PhD, a postdoctoral researcher at Rockefeller University and his colleagues have created the "human gene connectome" (HGC), unveiled in Proceedings of the National Academy of Sciences. (
  • In addition, W. Richard McCombie from Cold Spring Harbor presented analysis of structural re-arrangements and gene amplifications in a breast cancer cell line genome. (
  • The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. (
  • Eva Nogales and Yuan He used cryo-electron microscopy to record how a complex of biomolecules is able to read the human genome one gene at a time. (
  • We've provided a series of snapshots that shows how the genome is read one gene at a time," says biophysicist Eva Nogales who led this research. (
  • WASHINGTON (Reuters) - The White House said on Tuesday the ethical issues associated with gene-editing on the human genome need further study by the scientific community and should not be pursued until issues are resolved. (
  • The findings, appearing in the journal Nature , offer insights into embryonic development, gene regulation and other biological processes vital to understanding human biology and disease. (
  • To understand the biology of an organism or any cell type, scientists need to understand not only the information encoded in the genome sequence but also how the sequence is compacted and physically organized in each cell/tissue, and how changes in the 3D genome architecture can play a critical role in regulating gene expression, chromosome morphogenesis and genome stability. (
  • We know that the genome architecture is critical in regulating gene expression and, more important, in regulating genes that are critical for parasite virulence. (
  • String (5 million protein-protein interactions), FunCoup (model organisms protein connections), and HumanNet (18,000 human gene interactions). (
  • The human gene connectome produced results both expected and not. (
  • Dr. Itan can't patent the human gene connectome, because, at the risk of a double negative, it isn't non-obvious, and it's based on publicly available information. (
  • A practical application of the human gene connectome was in my blog from a few weeks ago, although I didn't know of it yet - diagnosing novel forms of a single-gene disease. (
  • The app finds the gene on one of the 23 human chromosomes, displaying an interactive image of its precise location among the genome's 3 billion base pairs. (
  • In most other human populations the gene is rare. (
  • Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture, and signals controlling epigenetic inheritance. (
  • Say Hello to Chip Skowron III, the Latest Hedge-Funder Charged With Insider Trading [Updated] Over a tip about Human Genome Sciences. (
  • The vision of the NIEHS is to use environmental health sciences to understand human disease and improve human health. (
  • The National Institute of Environmental Health Sciences (NIEHS) is expanding and accelerating its contributions to scientific knowledge of human health and the environment, and to the health and well-being of people everywhere. (
  • Drugs giant GlaxoSmithKline is holding talks to buy American firm Human Genome Sciences, its partner on an immune system disease medicine, in a $2.6bn (£1.7bn) deal. (
  • GlaxoSmithKline has gone hostile with its $2.6bn (£1.6bn) offer for US Human Genome Sciences - bypassing management and taking its bid directly to shareholders. (
  • Human Genome Sciences Inc.'s Benlysta, a drug that would become the first specific treatment for lupus since the disease was discovered, is effective in treating the autoimmune disorder but didn't benefit African Americans and carries several safety worries, FDA staff wrote in a review released Friday. (
  • Human Genome Sciences has already stopped work on another advanced drug candidate , Zalbin for hepatitis C, after the FDA declined to immediately approve the drug in October. (
  • Shares of Human Genome Sciences (NASDAQ: HGSI) fell 8.5 percent to about $24.50 by midday Friday on the release of the Benlysta review. (
  • Human Genome Sciences, Inc. ([[NYSE]]: HGSI)''' is a development stage biopharmaceutical company with three products in late-stage clinical development: Albuferon for chronic hepatitis C, LymphoStat-B for systemic lupus erythematosus (SLE), and ABthrax for anthrax disease. (
  • The ERP includes the Division of Genomic Medicine, the Division of Genome Sciences, the Division of Genomics and Society, and the Division of Extramural Operations. (
  • Humans have 46 chromosomes, which contain all of a person's genes and DNA. (
  • It's become clear that the spatial organization of chromosomes is critical for regulating the genome,' said study co-author Job Dekker, a molecular biologist at the University of Massachusetts Medical School. (
  • As depicted in basic biology textbooks and the public imagination, the human genome is packaged in bundles of DNA and protein on 23 chromosomes, arrayed in a neatly X-shaped form inside each cell nucleus. (
  • Of the estimated 100,000 human genes, more than 9,000 have been discovered, and more than 5,000 have been mapped to specific chromosomes (2). (
  • To accomplish this, they invented "bacterial artificial chromosomes" (BACs), which permit scientists to use bacteria as micromachines to accurately replicate pieces of human DNA that are over 100,000 base pairs in length. (
  • Humans have 23 pairs of chromosomes, or a total of 46. (
  • The team calls for a series of pilot projects, such as synthesizing much shorter segments of the genome and making slimmed-down chromosomes to do specific tasks, to make its eventual goal do-able. (
  • The scientists were also able to recover spontaneous BDV insertions in the chromosomes of human cultured cells persistently infected by BVD. (
  • Navigating the human genome with software that you can view on an iPad® sounds pretty impressive, until perhaps you reflect that nature has already encoded trillions of copies of this in your chromosomes. (
  • The distribution of LD is nonuniform on a chromosomal scale and in a marker density-independent fashion, with chromosomes 2, 15, and 18 being significantly different from the genome average. (
  • The genome is organized into 22 paired chromosomes, termed autosomes, plus the 23rd pair of sex chromosomes (XX) in the female, and (XY) in the male. (
  • Human Genome Variation is delighted to present its first Collection for the March 2019 issue. (
  • Structural variation in the human genome. (
  • However, the advent of genome-scanning technologies has now uncovered an unexpectedly large extent of what we term 'structural variation' in the human genome. (
  • Moreover, these data identify sites in the genome that are highly intolerant to variation-possibly essential for life or health. (
  • The extent to which copy number variation contributes to human disease is not yet known. (
  • The human genome reference sequence has provided a foundation for studies of genome structure, human variation, evolutionary biology and human disease. (
  • It was not clear, however, the degree to which structural variation and diversity affected our ability to produce a truly representative genome sequence at these loci. (
  • The meetings are designed to update and increase knowledge of human genome variation and generally attract a stimulating and interesting collection of abstracts in all fields of human genome variation making it an ideal forum to share information and results. (
  • A 2018 population survey found another 300 million bases of human genome that was not in the reference sequence. (
  • Many within the genomics industry believe that, as soon as the price is right, an individual's genome will be sequenced routinely and become part of her medical record. (
  • Similarly, the "image" projected by the human genome -- the raw list of Ts and A's and Cs and Gs in our DNA -- is a snapshot of human biology that requires context to really make sense, he said. (
  • This thorough revision of the best-selling Human Genome,2E includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. (
  • These and other findings appear today in six papers in Nature , and 24 in Genome Research and Genome Biology . (
  • The fundamental process of life by which information in the genome of a living cell is used to generate biomolecules that carry out cellular activities is the so-called "central dogma of molecular biology. (
  • Study results appeared online last week in Genome Research , an international, peer-reviewed journal that features outstanding original research providing novel insights into the genome biology of all organisms. (
  • Although that massive effort revealed the blueprint of human biology, it quickly became clear that the instruction manual for reading the blueprint was sketchy at best. (
  • In deciphering the human genome, biology became a truly industrial process. (
  • Over the decades and centuries to come this sequence will inform all of medicine, all of biology, and will lead us to a total understanding of not only human beings but all of life. (
  • Such genomic studies have led to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution. (
  • Rapidly accumulating evidence indicates that structural variants can comprise millions of nucleotides of heterogeneity within every genome, and are likely to make an important contribution to human diversity and disease susceptibility. (
  • This study identifies over 150 million human variants, a majority of them rare and unknown. (
  • We present the distribution of over 150 million single-nucleotide variants in the coding and noncoding genome. (
  • Each newly sequenced genome contributes an average of 8,579 novel variants. (
  • Next, the lists of structural variants in each genome are compared against each other. (
  • While there are significant differences among the genomes of human individuals (on the order of 0.1% due to single-nucleotide variants and 0.6% when considering indels), these are considerably smaller than the differences between humans and their closest living relatives, the bonobos and chimpanzees (~1.1% fixed single-nucleotide variants and 4% when including indels). (
  • Scientists drew their first rough map of the human genome back in 2000. (
  • President Bill Clinton made this remark on the White House lawn on June 2000 to recognize the decoding of the first human genome . (
  • IT TOOK more than a decade of effort, but Monday 26 June 2000 will be remembered as the day when humankind learned, in a sense, what it is to be human. (
  • Genome Wowser's name plays on the name of the data source that it emulates--the venerable UCSC Genome Browser, a website established in 2000 at the University of California Santa Cruz that serves as a popular worldwide data repository and genome exploration tool for human genome data. (
  • Human DNA, as it turns out, is largely junk - that is, 98.6 percent does not code for proteins. (
  • Only about 1 percent of our genome codes for proteins that actually do anything, so the rest of our DNA has been like biology's dark matter, acting in mysterious ways. (
  • We want to know where are the genes, the parts of the genome that code for proteins. (
  • 7. HOW MANY PROTEINS IN HUMAN PROTEOME : dependence between detection limit of the staining method and number of proteins spots on 2DE. (
  • Eric Green, director of the National Human Genome Research Institute, discusses the institute's vision. (
  • Eric D. Green, director of the National Human Genome Research Institute. (
  • To commemorate the anniversary, Eric D. Green, the director of the National Human Genome Research Institute at the National Institutes of Health, spoke about what has been accomplished, what it means and what is coming next. (
  • It's like Google Maps for the human genome,' says Elise Feingold, a program director for the National Human Genome Research Institute in Bethesda, Maryland, which funded ENCODE. (
  • This is a very exciting time for the National Human Genome Research Institute," said Director Francis S. Collins, M.D., Ph.D. "As we move to finish the human genome sequence in April 2003, the institute has been conducting a yearlong planning effort to prepare for the next phase of genomic research. (
  • Dr. Collins was the director of the National Human Genome Research Institute from 1993 to 2008. (
  • Elise Feingold is with the National Human Genome Research Institute. (
  • Only in 2020 was the first truly complete telomere-to-telomere sequence of a human chromosome determined, namely of the X chromosome. (
  • The HGP and subsequent research efforts have changed the consensus view of genes and noncoding DNA, casting them as part of an increasingly complex image of genes, DNA and other components of the genome. (
  • The gorilla genome is important because it tells us about that crucial time when we were diverging from our closest evolutionary cousins," said Aylwyn Scally of Britain's Wellcome Trust Sanger Institute, who led the research team. (
  • But the information assembled by ENCODE research -- which shows that regions of the genome once thought to be junk are actually stuffed with DNA "switches" that help direct genes in their work -- may help change that, scientists involved with the collaboration said Wednesday. (
  • The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead. (
  • For now, though, Marra looks at genome research as his chance to have an impact on people's health. (
  • Research along these lines raises serious and urgent questions about the potential implications for clinical applications that could lead to genetically altered humans," Holdren said in the statement on the White House website. (
  • The team is led by synthetic biologist Jef Boeke, at New York University, genome scientist George Church, at Harvard Medical School in Boston, and Andrew Hessel, a futurist at the commercial design studio Autodesk Research in San Rafael, California. (
  • 1988 - Program advisory committee on the human genome is established to advise NIH on all aspects of research in the area of genomic analysis. (
  • 1988 - The Office for Human Genome Research is created within the NIH Office of the Director. (
  • Also, NIH and the Department of Energy (DOE) sign a memorandum of understanding, outlining plans for cooperation on genome research. (
  • 1990 - The National Advisory Council for Human Genome Research (NACHGR) is established. (
  • A research team led by a cell biologist at the University of California, Riverside has generated a 3D model of the human malaria parasite genome at three different stages in the parasite's life cycle - the first time such 3D architecture has been generated during the progression of the life cycle of a parasite. (
  • Research from the University of Texas shows that the genomes of humans and other mammals contain DNA derived from the insertion of bornaviruses, RNA viruses whose replication and transcription takes place in the nucleus. (
  • This includes enabling pangenome research to represent the true scale of human diversity, a decidedly more practical pursuit. (
  • She argues that the massive divestment of public research funding into health genomics is aimed at bailing out an industry already in trouble over GM crops, and in danger of being driven to bankruptcy by the human genome. (
  • Marking a milestone in medical research, private and public scientists announced Monday they had effectively deciphered the genome: the blueprint of human life. (
  • The tandem announcement of the rough draft marked an unexpected scientific dÇtente between the rival research teams which, up until a week ago, were in a heated race for the prized genome. (
  • The technologies developed while mapping out the human genome ushered in a new age in DNA research. (
  • Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended, notice is hereby given of meetings of the National Advisory Council for Human Genome Research. (
  • Humans have four stretches of around 10 hox genes each, including a stretch on chromosome 12 . (
  • They filled the mouse stem cells with a single human chromosome. (
  • The jumping genes on the human chromosome, freed from their usual restraints, started spreading, much like an invasive species running amok on an island with no native predators. (
  • In human cells, changes in chromosome organization and compaction can lead to diseases such as cancer. (
  • In addition to text-based and graphical search options, the app provides zooming capabilities for its genome graphics, and drag-and-swipe navigation to move seamlessly across a chromosome. (
  • When scientists sequenced the human genome a decade ago, it was somewhat like looking at a blueprint in a foreign language - everything was marked in its proper location, but no one could tell what it all meant. (
  • Human genome quiz , It's ten years since scientists sequenced the human genome, the first step in answering some of the questions about what makes us tick. (
  • Using a procedure called polymerase chain reaction (PCR) analysis, they next sequenced the entire mitochondrial genome of the mastodon, which stretches about 16,000 letters, or "base pairs", long. (
  • These are usually treated separately as the nuclear genome and the mitochondrial genome. (
  • The Human Genome Organisation (HUGO) is a non-profit organization founded in 1988. (
  • For round numbers, the estimate in 2001 stood at 30,000 human genes. (
  • 2001 [2] Extent of modifications in Human Proteome Samples…, Nielsen et al. (
  • Many millions of dollars are being poured into projects like Encode, a massively ambitious effort to determine the role of every single piece of DNA in the human genome. (
  • What ENCODE allows you to do is provide an annotation of what each nucleotide of the genome does, so that when it's mutated, we can make some predictions about the consequences of the mutation," he tells MIT News . (
  • This catalog 'will change the way people think about and actually use the human genome, says John A. Stamatoyannopoulos, an ENCODE researcher at the University of Washington, Seattle. (
  • However, recent studies on RTEs have shown that they can in fact encode important functions, and much of their functional activity turns out to be related to how genomes are regulated. (
  • 22 PAIRS SOMATIC CHR 1 PAIR SEX CHR ________________________________________________ [1] The sequence of the human genome. (
  • Knowing the sequence of the human genome would be the greatest tool for identifying human mutations. (
  • Using the Oxford Nanopore Technologies (ONT) MinION sequencer, the team generated over 91.2 Gb of sequence data, or 30x coverage of the genome. (
  • Additionally, ~7X coverage of the genome is in reads exceeding 100 kb in length. (
  • But despite these SNPs, human beings only differ from one another by about 0.1 percent, enough to ensure that no two human beings are genetically identical, even, sometimes, identical twins. (
  • By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. (
  • Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. (
  • Of dramatic interest is the number of genes in the human genome. (
  • Both groups have come to the same wholly unexpected conclusion, which is that the number of genes in the human genome is less than one quarter of the anticipated result. (
  • This mobile lifestyle is so successful that retrotransposons make up more than 40 percent of the human genome. (
  • Because few descriptions of LD for most regions of the human genome exist, we searched the human genome for the amount and extent of LD among 5048 autosomal short tandem repeat polymorphism (STRP) loci ascertained as specific haplotypes in the European CEPH mapping families. (
  • The human genome is the biological blueprint of the 3 billion pairs of chemicals inside human DNA. (
  • Celera Genomics, the company that mapped the human genome, acquired Paracel for nearly $250 million in stock in June. (
  • In a special edition of the show, Charlie investigates the race to map the human genome, in a profile of Celera Genomics' Craig Venter. (
  • The completed sequence will help scientists to identify the 25,000-30,000 genes in humans, including those involved in complex diseases such as cancer and diabetes. (
  • By learning about our genome, scientists will better understand how our bodies work and how diseases develop. (
  • Further, KAAS based annotation revealed the presence of CNS genes in different pathways involved in human diseases. (
  • Some rare diseases appear to be completely determined by the genome, whereas more common diseases arise from a complex interplay of many genes, the environment and chance. (
  • In the years since then, thousands of scientists have been mining these data for information about the human body, how its genes shape development and behavior, and the role mutations play in diseases. (
  • Discovering genes that contribute to common human diseases is always difficult, Voight said. (
  • In our effort to find the answers to some of the most afflicting conditions and diseases known to science, biologists are rapidly turning to mapping the human genome to help us solve some of the great questions, such as: why do some people get certain diseases while others don't? (
  • Less than three years after finishing the working draft of the three billion letters that make up human DNA and two years earlier than expected, an international consortium of scientists said Monday the set of instructions on how humans develop and function is done. (
  • In addition, the Genome Reference Consortium presented de novo assemblies for two human cell lines targeted for "platinum-grade" references. (
  • Francis Collins, head of the public human genome consortium, runs a laboratory in the US National Institutes of Health. (
  • The results, released this week, reveal that our genome is far more complex and mysterious than biologists imagined just a decade ago. (
  • The new approach - looking at systems of genes rather than individual genes - will transform biologists' view of the human body. (
  • This story began nearly 30 years ago when biologists and data scientists teamed up to map the human genome for the first time. (
  • ELISE FEINGOLD: So the most amazing thing that we found was that we can ascribe some kind of biochemical activity to 80 percent of the genome. (
  • We can sequence a human genome in a couple of days for well under $10,000, probably around $4,000 or $5,000. (
  • Koonin, who is Caltech's provost, was chair of the JASON study of 1997, which noted to the scientific community that quality standards could be relaxed so that a "rough draft" of the human genome could be made years earlier and still be of great utility. (
  • Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. (
  • It took almost 10 years to sequence the first draft human genome. (
  • At the time the first draft human genome was published , the Director of the Sanger Centre, Professor Sir John Sulston, said that, "One should not underestimate how important this event is in human history. (
  • Surprisingly, there is a lack of genome analysis data in literature against CNS particularly of human origin. (
  • As the genome data comes out, you want to analyze it as fast as you can, make the discoveries first and protect the intellectual property,'' said Martin D. Leach, director for bioinformatics at CuraGen, which uses genomics to develop drugs. (
  • The ability to do this is significant," Matthew Loose, Ph.D., associate professor of medicine at the University of Nottingham and one of the lead authors on the paper, tells GEN . "This is the first time it's been possible to generate enough data on a nanopore sequencer to perform a de novo assembly of the human genome. (
  • Genome Graphs is a tool for displaying genome-wide data sets such as the results of genome-wide SNP association studies, linkage studies and homozygosity mapping. (
  • Public access to genome data is essential to maximize its usefulness, Marra says. (
  • In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. (
  • Genome Wowser supports viewing and querying of multiple types of genomic data, so that users can select the types of information that interest them and view them concurrently in a stacked display for a selected region. (
  • Perhaps most importantly, Genome Wowser allows convenient portability of genomic data. (
  • Their comprehensive and integrated data analysis, conducted by primarily by Dr. Jianrong Wang from Dr. Jordan's team, allowed them to pinpoint the location of thousands of individual MIR elements in the human genome that appear to function as so-called "boundary elements" in T lymphocyte cells of the immune system. (
  • Contemplating the sheer scale of how much data is produced just by mapping a single genome is mind-boggling. (
  • Comparisons between these can help us explore the origins of humans when we separated from the great ape species in Africa between 6 and 10 million years ago," said Richard Durbin, who also worked on the study at the Sanger Institute. (
  • And the latter two species appear to have split about 6.7 million years ago - roughly around the same time that humans and chimps last shared a common ancestor. (
  • Perhaps the three species' shared ancestor was more like a chimp -- and humans and chimps share genes, say, for aggression. (
  • KAP1 works differently in different species, targeting those retrotransposons that are active in that owner's genome. (
  • Given that human genome synthesis is a technology that can completely redefine the core of what now joins all of humanity together as a species, we argue that discussions of making such capacities real, like today's Harvard conference, should not take place without open and advance consideration of whether it is morally right to proceed. (
  • Humans are not the only species to benefit from genomics. (
  • We now have sufficiently powerful biochemical tests to survey over a million sites on the genome simultaneously and, theoretically cover all chromosomal regions of the entire genome. (
  • Geneticists from around the world collaborated to determine the nucleotide sequence for the complete human genome. (
  • Shasta is an in-memory computing-driven algorithm that can help complete a de novo human genome assembly in under six hours, the authors said, for an average cost of $70 per sample. (
  • Le Roch's team found that these genes, all organized into one repression center in a distinct area in the nucleus, seem to drive the full genome organization of the parasite. (
  • Prior to the acquisition of the full genome sequence, estimates of the number of human genes ranged from 50,000 to 140,000 (with occasional vagueness about whether these estimates included non-protein coding genes). (
  • The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. (
  • the human genome contains more than 3 billion nucleotides or DNA letters. (
  • But scientists deciphering the human genome found, to their surprise, that these protein-coding genes took up less than 3% of the genome. (
  • As genome sequence quality and the methods for identifying protein-coding genes improved, the count of recognized protein-coding genes dropped to 19,000-20,000. (
  • Using Genome Wowser, a researcher can traverse the human genome just like planning a travel route on Google Maps. (
  • In fact, the company will implement a seven-day waiting period after an individual surrenders his saliva for analysis to give customers time to make sure that they truly want to know the contents of their genome. (
  • The way it was done then, we were reading out the letters of the genome, one page at a time, and at the end of the day different pages came from different people. (
  • The administration believes that altering the human germline for clinical purposes is a line that should not be crossed at this time," John Holdren, director of the White House Office of Science and Technology Policy, said in a statement. (
  • The method was then improved upon, using the PromethION nanopore sequencer, shortening the time of the genome assembly to about a week. (
  • We argue that the synthesis of less controversial and more immediately useful genomes along with greatly improved sub-genomic synthesis capacities (for example, the real-time printing of plasmids the casettes that transfer genes between cells) should be pursued instead. (
  • From time to time a storm arises in the virosphere and affects humans. (
  • Much of the so-called junk DNA in our genomes has accumulated over evolutionary time due to the activity of retrotransposable elements (RTEs), which are capable of moving (transposing) from one location to another in the genome and make copies of themselves when they do so. (
  • Recent human history was a time of rapid change in population size, diet, pathogen exposure, and culture,' Akey said. (
  • Back then, it cost a total of $2.7bn but now, in almost the same amount of time it took to create one genome, we have more than 1m genomes mapped and it costs as little as $1,000 to generate. (
  • But at the same time we were in a race and it felt incredibly important to make the human genome publicly available to ensure that the whole world would benefit. (
  • The picture is one of mind-blowing fractal glory, and the technique could help scientists investigate how the very shape of the genome, and not just its DNA content, affects human development and disease. (
  • Apart from comparing the genome homology, size and G + C content, we also showed the presence 10 different CRISPR-cas genes in the CNS strains. (
  • Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. (
  • Adding the bonobo genome to the already-sequenced human, chimpanzee, gorilla and orangutan genomes gives scientists a complete catalog of the DNA of all of the so-called great apes. (
  • The string of biological code present in humans was so long - some 3 billion units - that scientists had expected it to contain instructions to create anywhere from 50,000 to 150,000 genes. (
  • While we strongly agree that sustained improvements in DNA construction tools are essential for advancing basic biological science and improving public health we are sceptical that synthesising a human genome is an appropriate demand driver. (
  • Within the genome lie clues to each person's risk for disease, his or her reaction to different medications, and other medically useful information. (
  • The idea all along was not to sequence a person's genome, but to develop a resource. (
  • How hard is it today to sequence a person's genome? (
  • David Reich/Nature The entire genome of the Denisovans was extracted from a tooth and finger bone. (
  • After the entire human genome is sequenced, scientists still won't know which genes control which traits. (
  • Because the process was so slow and required the work of highly skilled technicians, it was clear to most scientists in the mid '80s that it would not be possible to sequence entire genomes by manual methods. (
  • The $48,000 price tag comes with 30-fold coverage of the entire genome (an individual's DNA must be analyzed multiple times to generate a comprehensive sequence) but minimal analysis of the information that it holds. (
  • Knome already provides analysis of the entire genome and thus will likely have a leg up on the competition in terms of interpretation. (
  • Proposals for a large public-private initiative to synthesize an entire human genome from scratch - an effort that could take a decade and require billions of dollars for technological development - were formally unveiled today, a month after they were first aired at a secretive meeting. (
  • So we're trying to drive things to actually measure the entire human genome and do it accurately. (
  • Currently, scientists can sequence the entire basic code of DNA, but knowing the larger-scale 3D architecture of the genome would reveal more information about how cells use the code. (
  • Their goal is to figure out the order of all 'DNA letters' (bases) in our genome. (
  • In humans, they range in size from a few hundred DNA bases to more than 2 million bases. (
  • There are three billion bases in one human genome and each cell in our body has double this number. (
  • It covers approximately 99% of the euchromatic genome and is accurate to an error rate of approximately 1 event per 100,000 bases. (
  • In the decade since the human genome was published, scientists have been frustrated by their inability to figure out exactly how variations in genes promote disease. (
  • The first curve in his genome career path came a decade ago, when Dr. David Baillie at Simon Fraser offered him graduate work in his laboratory. (
  • The understanding of how our genomes contribute to disease susceptibility offers the prospect of large gains: it may guide disease diagnostics and prognostics and help in developing new therapies. (
  • LONDON (Reuters) - Scientists have sequenced the genome of the gorilla, the last great ape to have its genes decoded, and say it gives new insights into differences between the apes and humans -- including their ability to produce competitive sperm. (
  • In the second part of the study, they compared the differences between this genome sequence and those obtained from African elephants, Asian elephants and mammoths. (
  • Thus there came into existence a complete human genome with no gaps. (
  • That's because humans are 99.9 percent genetically the same. (
  • They found as expected that humans and chimpanzees are genetically closest to each other over most of the genome, but they found many places where this is not the case. (
  • It raises all kind of Brave New World issues about genetically engineering the human race. (