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 ...
TY - JOUR. T1 - A map of human genome variation from population-scale sequencing. AU - Altshuler, David L.. AU - Durbin, Richard M.. AU - Abecasis, Gonçalo R.. AU - Bentley, David R.. AU - Chakravarti, Aravinda. AU - Clark, Andrew G.. AU - Collins, Francis S.. AU - De La Vega, Francisco M.. AU - Donnelly, Peter. AU - Egholm, Michael. AU - Flicek, Paul. AU - Gabriel, Stacey B.. AU - Gibbs, Richard A.. AU - Knoppers, Bartha M.. AU - Lander, Eric S.. AU - Lehrach, Hans. AU - Mardis, Elaine R.. AU - McVean, Gil A.. AU - Nickerson, Debbie A.. AU - Peltonen, Leena. AU - Schafer, Alan J.. AU - Sherry, Stephen T.. AU - Wang, Jun. AU - Wilson, Richard K.. AU - Deiros, David. AU - Metzker, Mike. AU - Muzny, Donna. AU - Reid, Jeff. AU - Wheeler, David. AU - Wang, Shenzhen Jun. AU - Li, Jingxiang. AU - Jian, Min. AU - Li, Guoqing. AU - Li, Ruiqiang. AU - Liang, Huiqing. AU - Tian, Geng. AU - Wang, Bo. AU - Wang, Jian. AU - Wang, Wei. AU - Yang, Huanming. AU - Zhang, Xiuqing. AU - Zheng, Huisong. AU - ...
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
BRISBANE, Australia - Scientists from the University of Queensland report in the journal Genome Research that large segments of the human genome are conspicuously devoid of ubiquitous mobile DNA elements called transposons. The locations of these regions are highly conserved among mammalian species and are enriched in genes crucial for the regulation of developmental processes. Transposons, often called jumping genes, are DNA sequences that have the capacity to move from one chromosomal site to another. More than three million copies of transposons have accumulated in humans throughout the course of evolution and now comprise an estimated 45% of the total DNA content in the human genome. These mobile genetic elements are scattered throughout the human genome - separated, on average, by only 500 base pairs. But Dr. John Matticks laboratory at the University of Queensland, Australia, identified long tracks of genomic segments (greater than 10 kilobases in length) that lack transposable ...
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
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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 human genome sequences were published in nearly complete draft form in February 2001 by the Human Genome Project and ... These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein- ... The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell ... The human genome was the first of all vertebrates to be sequenced to such near-completion, and as of 2018, the diploid genomes ...
"Human Genome Project Completion: Frequently Asked Questions". genome.gov. "Human Genome Project: Sequencing the Human Genome , ... "About the Human Genome Project: What is the Human Genome Project". The Human Genome Management Information System (HGMIS). 18 ... Human Genome Information Archive. "About the Human Genome Project". U.S. Department of Energy & Human Genome Project program. ... Nature magazine's human genome gateway, including the HGP's paper on the draft genome sequence Wellcome Trust Human Genome ...
"Human Genome Organisation (HUGO) International Ltd. - Human Genome Meeting". www.hugo-international.org. Retrieved 4 September ... The Human Genome Organisation (HUGO) and the 2020 COVID-19 pandemic (Human Genomics 15:12), 2021 Statement on Bioinformatics ... McKusick Ira Carmen List of genetics research organizations International Mammalian Genome Society "Human Genome Organisation ( ... "Chen Award". Human Genome Organisation. Retrieved 2 March 2020. HUGO homepage HGNC homepage CELS homepage (All articles with ...
"Human Genome Sciences rejects GSK's $2.59bn takeover bid". 20 April 2012. "Human Genome Sciences Announces Unsolicited Offer ... Human Genome Sciences (HGS) was a biopharmaceutical corporation founded in 1992 by Craig Venter, Alan Walton and Wally ... "GlaxoSmithKline buys Human Genome Sciences for $3.6B." Washington Post. July 16, 2012. Accessed 2012-07-16. HGS Press Release, ... Human Genome Sciences Official Web Site. (Articles with short description, Short description is different from Wikidata, ...
The HGDP is not related to the Human Genome Project (HGP) and has attempted to maintain a distinct identity. The whole genome ... Some members of the Human Genome Project (HGP) argued in favor of engaging in diversity research on data gleaned from the Human ... The study of human populations has been at the forefront of genomic and clinical research since the Human Genome Project (HGP) ... Human population genetics, Human genome projects, Population genetics organizations). ...
The GDB Human Genome Database was a community curated collection of human genomic data. It was a key database in the Human ... Cuticchia, A.J. (27 Dec 1999). "Future vision of the GDB human genome database". Human Mutation. 15 (1): 62-67. doi:10.1002/( ... "Human Genome News, September-December 1995: 7(3-4):15". web.ornl.gov. Guyer, M. S.; Collins, F. S. (21 November 1995). "How is ... "Human Genome News Vol.10,No.1-2, February 1999". web.ornl.gov. Retrieved 3 September 2020. Seewald, A.K. (2004). "Ranking for ...
"Human Genome Project Research Sites". web.ornl.gov. Retrieved 2021-02-14. Berger, Eric (2007-10-28). "Aussie's life choices put ... The Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) was established by Richard A. Gibbs in 1996 when ... one of three National Institutes of Health funded genome centers that were involved in the completion of the first human genome ... "High-depth African genomes inform human migration and health". Nature. 586 (7831): 741-748. doi:10.1038/s41586-020-2859-7. ISSN ...
The Structure atlas of human genome (SAHG) is a database of protein-structure-prediction. Protein structure Motono C, Nakata J ... a comprehensive database of predicted structures of all human proteins". Nucleic Acids Res. England. 39 (Database issue): D487- ...
April 2003 - The National Human Genome Research Institute (NHGRI) celebrates the completion of the human genome sequence, the ... "Francis S. Collins to Step Down as Director of National Human Genome Research Institute". Genome.gov. May 28, 2008. staff (2008 ... In 1997 the United States Department of Health and Human Services (DHHS) renamed NCHGR the National Human Genome Research ... "coordinate research and technical activities related to the human genome." April 11, 1996 - Human DNA sequencing begins with ...
Chinese National Human Genome Center (国家人类基因组北方研究中心), Beijing (CHGB), was established as one of the national-level genome ... Chinese National Human Genome Center at Shanghai (国家人类基因组南方研究中心), Microbial Genome Center at Ministry of Health, Tsinghua ... CHGB coordinates scientific activities in human genome research with the Chinese Academy of Medical Sciences(CAMS), Peking ... Human genome projects, Genetics or genomics research institutions, Research institutes
... human accelerated regions, HARs) implies that BGC has occurred frequently in the human genome (Pollard et al. 2006, Galtier and ... Initial sequence of the chimpanzee genome and comparison with the human genome, Nature, Vol. 437 pp. 69-87 Crespi, B., Summers ... Below are listed some of the types of gene which show strong evidence of adaptive evolution in the human genome. Disease genes ... The rate of adaptive evolution in the human genome has often been assumed to be constant over time. For example, the 35% ...
In the human genome project the human genome was successfully sequenced, which provided a reference human genome for comparison ... The 1000 genomes project was able to successfully produce the DNA sequence of the human genome. They provided much sequencing ... variation in copy number in the human genome which questioned the characteristics of copy number variants in the human genome. ... Humans have an incredibly complex and intricate genome that has been shaped and modified over time by evolution. About 99.9% of ...
The declaration is perhaps best known for its statement against human cloning and abuse of human genome against human dignity. ... The first article of the Declaration states that "The human genome underlies the fundamental unity of all members of the human ... The Universal Declaration on the Human Genome and Human Rights is a document that was issued by the United Nations Educational ... Universal Declaration on the Human Genome and Human Rights (2000 publication) v t e (UNESCO, All stub articles, United Nations ...
... the human genome breakthrough dividing former colleagues". The Independent. Retrieved 2016-02-11. "What is genome editing?". ... Many transhumanists see genome editing as a potential tool for human enhancement. Australian biologist and Professor of ... The key to genome editing is creating a DSB at a specific point within the genome. Commonly used restriction enzymes are ... "WHO launches global registry on human genome editing." PharmaBiz, 31 Aug. 2019. Gale General OneFile, Accessed 27 Apr. 2020. ...
"Genome and genetic resources from the Cancer Genome Anatomy Project". Human Molecular Genetics. 10 (7): 663-667. doi:10.1093/ ... Integration of cytogenetic and physical maps of the human genome Generate a clone repository of BAC clones across the genome ... The project includes human and mouse genes, and later cow cDNAs generated by Genome Canada were added. SAGEmap is the database ... As part of this project there is a repository of physically and cytogenetically mapped BAC clones for the human genome that are ...
It has been successfully applied to edit human genomes, and has started to displace RNAi as the dominant tool in mammalian ... January 2014). "Genome-scale CRISPR-Cas9 knockout screening in human cells". Science. 343 (6166): 84-87. Bibcode:2014Sci...343 ... Zhang F, Wen Y, Guo X (September 2014). "CRISPR/Cas9 for genome editing: progress, implications and challenges". Human ... November 2015). "Identification and characterization of essential genes in the human genome". Science. 350 (6264): 1096-101. ...
... a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African ... The Qatar Genome Programme aims to sequence the genomes of 350,000 inhabitants of Qatar. Supported by the Sidra Medical and ... The Qatar Genome Programme published its first genome-wide association study with 45 clinically relevant traits in 2021 Apart ... from the Qatar Genome Programme, a number of other genome-scale studies have emerged from Qatar, including ones looking at the ...
"Viruses - Complete Genomes". NCBI. Retrieved 2013-01-17. "Human Adenovirus E Genome". NCBI. Retrieved 2013-01-17. "Human ... The example used for the following description is Human adenovirus E, a mastadenovirus with a 36 Kbp genome containing 38 ... The 38 genes in the Human adenovirus E genome are organized in 17 transcription units, each containing 1-8 coding sequences. ... and properties of the 38 protein-coding genes in the Human Adenovirus E genome are given in the following table. The functions ...
Human Microbiome Project is sequencing the genomes of microbes involved in human health and disease. 1000 Genomes Project seeks ... Following completion of the working draft of the human genome in 2000, and the finished human genome sequence in 2003, ... formerly the Genome Sequencing Center and The Genome Institute, began as a key player in the Human Genome Project, ultimately ... McDonnell Genome Institute's Outreach Department was established in 2003 in response to the National Human Genome Research ...
The genome and proteins of HIV (human immunodeficiency virus) have been the subject of extensive research since the discovery ... The genome of human immunodeficiency virus (HIV) encodes 8 viral proteins playing essential roles during the HIV life cycle. ... allows it to infect human immune cells by binding to a cytokine receptor on the target human immune cell, such as a CCR5 cell ... "In the search for the causative agent, it was initially believed that the virus was a form of the Human T-cell leukemia virus ( ...
The horse genome is larger than the dog genome, but smaller than the human genome or the bovine genome. It encompasses 31 pairs ... "2007 Release: Horse Genome Assembled". National Human Genome Research Institute. Retrieved 2013-04-01. "Quarter Horse Genome ... Bowling Genome project Equine coat color genetics "Sequenced horse genome expands understanding of equine, human diseases". ... As horses share over 90 hereditary diseases similar to those found in humans, the sequencing of the horse genome has potential ...
... which is based on performing a Bonferroni correction for all the independent common SNPs across the human genome. If a p-value ... "Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies: Genome-Wide Significance for Rare Variants". Genetic ... In genome-wide association studies, genome-wide significance (abbreviated GWS) is a specific threshold for determining the ... Panagiotou, Orestis A; Ioannidis, John P A; for the Genome-Wide Significance Project (February 2012). "What should the genome- ...
Few Neanderthal regions have fixed in human genomes during the ca. 2000 generations after hybridization, and segregating ... Following genome duplication in allopolyploids, the genome goes through diploidization, which is a process in which the genome ... The genomes of homoploid hybrid species are mosaics of the parent genomes as ancestry tracts from the parent species are broken ... January 2008). "Genome-wide patterns of gene flow across a house mouse hybrid zone". Genome Research. 18 (1): 67-76. doi: ...
The $1,000 Genome. (New York: Free Press, 2010). ISBN 1-4165-6959-6 "The Cost of Sequencing a Human Genome". Retrieved 15 April ... By late 2015, the cost to generate a high-quality "draft" whole human genome sequence was just below $1,500. The "$1,000 genome ... 1,000 genome. The grand prize would go to "the team(s) able to sequence 100 human genomes within 30 days to an accuracy of 1 ... Here is a Human Being. (New York: HarperCollins, 2010). ISBN 0-06-162833-6 Kevin Davies. The $1,000 Genome. (New York: Free ...
... separately also provides a mechanism to potentially fill in some of the gaps that remain in the human reference genome. Single ... Whole genome haplotyping is the process of resolving personal haplotypes on a whole genome basis. Current methods of next ... Whole genome direct haplotyping involves the resolution of haplotype at the whole genome level, usually through the isolation ... Whole-genome molecular haplotyping of single cells. Fan HC et al. Nat Biotechnol. 2011 Whole Genome Amplification from ...
Since the Human Genome Project was completed in the early 2000, researchers have been sequencing the genomes of many ... Cook-Deegan R, Heaney C (2010-09-01). "Patents in genomics and human genetics". Annual Review of Genomics and Human Genetics. ... biotechnological companies have been able to use human DNA sequence to develop protein and antibody drugs through genome mining ... By adopting genome mining, the BGCs that produce the target natural product can be predicted. Some important enzymes ...
Humans, Homo sapiens; see Human genome project Humans, Homo sapiens; see The Human Genome Project-Write Palaeo-Eskimo, an ... The Human Genome Project is a well known example of a genome project. Genome assembly refers to the process of taking a large ... "Potential Benefits of Human Genome Project Research". Department of Energy, Human Genome Project Information. 2009-10-09. ... taurus Bovine genome Honey Bee Genome Sequencing Consortium Horse genome Human microbiome project International Grape Genome ...
National Human Genome Research Institute (2012). "NHGRI Mnemiopsis Genome Project". Retrieved 2013-02-05. Ryan JF, Pang K, ... October 2011). "The draft genome of the carcinogenic human liver fluke Clonorchis sinensis". Genome Biology. 12 (10): R107. doi ... September 2005). "Initial sequence of the chimpanzee genome and comparison with the human genome". Nature. 437 (7055): 69-87. ... June 2012). "The bonobo genome compared with the chimpanzee and human genomes". Nature. 486 (7404): 527-31. Bibcode:2012Natur. ...
... human genome = 3.23 billion bases [Gb]) of any of the featured genomes. A liftOver tool uses whole-genome alignments to allow ... the UCSC Genome Browser began as a resource for the distribution of the initial fruits of the Human Genome Project. Funded by ... "The human genome browser at UCSC". Genome Res. 12 (6): 996-1006. doi:10.1101/gr.229102. PMC 186604. PMID 12045153. Kuhn, R. M ... The Genome Graphs tool allows users to view all chromosomes at once and display the results of genome-wide association studies ...
"2016 News Release: New NIH research program targets the genomic basis for human disease". National Human Genome Research ... In 2016 it received a $40 million grant from the National Human Genome Research Institute to establish a Center for Common ... New York Genome Center. Retrieved 22 November 2016. Lagasse, Jeff (21 January 2016). "New York Genome Center scores $100 ... The New York Genome Center is a 501(c)(3) nonprofit academic research institution in New York, New York. Since its inception, ...
Mischel and colleagues integrated whole genome sequencing, cytogenetics and structural modeling to accurately and globally ... is an American physician-scientist whose laboratory has made pioneering discoveries in the pathogenesis of human cancer. He is ... signal transduction and cellular metabolism in the pathogenesis of human cancer. Mischel found that tumors can dynamically ...
Uridine-cytidine kinase-like 1 is an enzyme that in humans is encoded by the UCKL1 gene. GRCh38: Ensembl release 89: ... 2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 20, All stub articles, ...
... acts as a parasite, and gains most of its nutrients from its host because it has a very small genome, ... Mycoplasma incognitus is a human invasive Mycoplasma type bacteria, as well as a disease agent that can cause a variety of ... known that the most frequently colonized sites are epithelial cell surfaces and red and white blood cells inside of the human ...
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... this domain does not occur in any other proteins encoded by the genome. The strain has a pleiotropic phenotype including ... Suchi M, Harada N, Tsuboi T, Asai K, Okajima K, Wada Y, Takagi Y (1990). "Molecular cloning of human UMP synthase". Purine and ... Yablonski MJ, Pasek DA, Han BD, Jones ME, Traut TW (May 1996). "Intrinsic activity and stability of bifunctional human UMP ...
Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene. The ... "Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population". Nature ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 6, Wikipedia ... Aftab S, Semenec L, Chu JS, Chen N (2008). "Identification and characterization of novel human tissue-specific RFX ...
However, this led to the incorporation of more helper phage genomes rather than phagemid genomes. In all cases, phage display ... "Recombinant human Fab fragments neutralize human type 1 immunodeficiency virus in vitro". Proceedings of the National Academy ... "In vitro evolution of a neutralizing human antibody to human immunodeficiency virus type 1 to enhance affinity and broaden ... "A large array of human monoclonal antibodies to type 1 human immunodeficiency virus from combinatorial libraries of ...
Genomes are circular, around 8kb in length. Viral replication is nuclear. Entry into the host cell is achieved by attachment of ... Human serve as the natural host. Transmission routes are contact. Van Doorslaer, K; Chen, Z; Bernard, HU; Chan, PKS; DeSalle, R ... Human serve as natural hosts. There are 27 species in this genus. Diseases associated with this genus include: warts, papilloma ...
The American cockroach genome is the second-largest insect genome on record, after Locusta migratoria. Around 60% of its genome ... They are believed to have been introduced to the Americas only from the 17th century AD onward as a result of human commercial ... Around 90% of the genome can be found in other members of Blattodea. The genome codes for a large number of chemoreceptor ... The 522 taste receptors comprise the largest number found among insects for which genomes have been sequenced. About 329 of the ...
... to record his human genome into paper and separated it into 7 books. Once an appropriate body/host was found, these books would ... As the son of two great, though distinct beings, whose intellect and physiology is deemed as superior above all other humans, ... no matter the human cost. At the end of the TV Series, he is seen recovering from a comatose state after being "force-fed" part ... super-human people around him. He has a young daughter named Maggie, but with no relation to the aforementioned papermaster. ...
"More Mr Mulliner". BBC Genome. BBC. 2019. Retrieved 8 September 2019. Sources McIlvaine, Eileen; Sherby, Louise S.; Heineman, ... turns out to be a lunatic runaway from the local asylum who thinks he is the Emperor of Abyssinia and wishes to perform a human ...
A collaborative effort coordinated by the Broad Institute is currently ongoing to sequence the genomes of several black fungi ... A man-made ecological niche accommodating human opportunistic fungal pathogens". Fungal Biology. 115 (10): 997-1007. doi: ...
Humans and other mammals serve as the natural host. Transmission routes are fecal-oral and contamination. When a person becomes ... The cloning and sequencing of the Norwalk virus genome showed that these viruses have a genomic organization consistent with ... The norovirus can survive for long periods outside a human host depending on the surface and temperature conditions: it can ... 2016) Molecular ecolution of the capsid gene in human norovirus genogroup II. Sci Rep 6:29400 Ozaki K, Matsushima Y, Nagasawa K ...
Intron-less genes only make up about 3% of the human genome. A functional analysis of these types of genes revealed that they ... "Human BLAT Search". genome.ucsc.edu. Retrieved 2021-08-01. "GeneLoc Integrated Map for Chromosome 11: Search Results". ... No isoforms for the human PANO1 protein could be identified. Human PANO1 protein has a molecular weight of 22.8 kb and a ... PANO1 is a protein which in humans is encoded by the PANO1 gene. PANO1 is an apoptosis inducing protein that is able to ...
Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H (2001). "Complete genomic sequence of 195 Kb of human DNA containing ... 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome ... Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene. Gamma-aminobutyric ... Wilcox AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, Wasmuth JJ, Patterson D, Sikela JM (July 1992). "Human ...
Carey, Teresa L. (May 9, 2019). "DNA tests stand on shaky ground to define Native American identity". National Human Genome ... The exploitation of Indigenous genetic material, like the theft of human remains, land and artifacts, has led to widespread ...
In 2011, Moore's genome was the first human genome sequenced on Ion Torrent's Personal Genome Machine platform, a massively ... "An integrated semiconductor device enabling non-optical genome sequencing". Nature. 475 (7356): 348-352. doi:10.1038/ ...
Copy-number variations (CNVs) are an abundant form of genome structure variation in humans. A discrete-valued bivariate HMM ( ... "Systematic prediction and validation of breakpoints associated with copy-number variations in the human genome". Proceedings of ... Burge, Chris; Karlin, Samuel (1997). "Prediction of Complete Gene Structures in Human Genomic DNA". Journal of Molecular ...
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Identical twins have identical genomes in the immediate aftermath of twinning. Two-thirds of monozygotic twins share the same ... Human genetics, All stub articles, Developmental biology stubs, Genetics stubs). ...
Encapsidation of the genome occurs through interactions between N and M. N is essential for viral assembly. N also serves as a ... "Targets of T Cell Responses to SARS-CoV-2 Coronavirus in Humans with COVID-19 Disease and Unexposed Individuals". Cell. 181 (7 ... Like the other structural proteins, the gene encoding the N protein is located toward the 3' end of the genome. N protein is ... The N protein binds to RNA to form ribonucleoprotein (RNP) structures for packaging the genome into the viral capsid. The RNP ...
Probable ATP-dependent RNA helicase DDX46 is an enzyme that in humans is encoded by the DDX46 gene. This gene encodes a member ... Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 5, All stub articles, ... including a human Prp5p homologue and an SF3b DEAD-box protein". EMBO J. 21 (18): 4978-88. doi:10.1093/emboj/cdf480. PMC 126279 ...
Human relations area files, 1-2. New Haven, Conn: Human Relations Area Files. Armando Marques Guedes (1996). Egalitarian ... "Genome of a middle Holocene hunter-gatherer from Wallacea". Nature. 596 (7873): 543-547. Bibcode:2021Natur.596..543C. doi: ... Rites of the Atta hunter-gatherers of Kalinga-Apayao, Philippines, Social and Human Sciences Faculty, Universidade Nova de ... Yang, Melinda A. (6 January 2022). "A genetic history of migration, diversification, and admixture in Asia". Human Population ...
Moreover, it has been seen that CAD participates in the formation of genome whose DNA breaks during early stages of the cell ... "CASP3 caspase 3 [Homo sapiens (human)] - Gene - NCBI". Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). " ... Caspase-activated DNase (CAD) or DNA fragmentation factor subunit beta is a protein that in humans is encoded by the DFFB gene ... Halenbeck R, MacDonald H, Roulston A, Chen TT, Conroy L, Williams LT (April 1998). "CPAN, a human nuclease regulated by the ...
The genome sequence helped to further establish the validity of the Archaea through the finding of similarities to higher ... Weiss, Rick (2007-09-25). "'Superbugs' Could Benefit Humans". The Washington Post. ISSN 0190-8286. Retrieved 2016-07-11. ... In the 1990s, he organized and led the team that deciphered the first genome sequence and genetic code for a halophilic microbe ... "NSF - OLPA - PR 00-69: International Research Group Sequences Genome of Ubiquitous Microbe". www.nsf.gov. Retrieved 2016-07-11 ...
Study of Snowflake's genome determined that his parents had 12% of their DNA in common, leading researchers to believe that his ... which was an albino gorilla that was twice the height of a human and was named "Little Kong". In Legends of Chima, the Gorilla ... "The genome sequencing of an albino western lowland gorilla reveals inbreeding in the wild". BMC Genomics. 14: 363. doi:10.1186/ ...
Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55-65. ... Epidermal growth factor receptor kinase substrate 8-like protein 1 is an enzyme that in humans is encoded by the EPS8L1 gene. ... 1999). "[Cloning and expression analyses of down-regulated cDNA C6-2A in human esophageal cancer]". Zhonghua Yi Xue Yi Chuan ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
Power consumption is 25 kW, and one of the tasks it was used for was the part of human genome mapping that China was ...
Human CLINT1 genome location and CLINT1 gene details page in the UCSC Genome Browser. Nagase T, Seki N, Ishikawa K, et al. ( ... Liou YJ, Lai IC, Wang YC, Bai YM, Lin CC, Lin CY, Chen TT, Chen JY (June 2006). "Genetic analysis of the human ENTH (Epsin 4) ... V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA ... Clathrin interactor 1 (CLINT1), also known as EPSIN4, is a protein which in humans is encoded by the CLINT1 gene. The CLINT1 ...
"A Genome-Wide Screen for Normally Methylated Human CpG Islands That Can Identify Novel Imprinted Genes". Genome Research. 12 (4 ... Mutation in the TENM3/ODZ3 gene in humans has been associated with the eye condition, microphthalmia. Teneurin protein was ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ... in humans, is encoded by the TENM3, or ODZ3, gene. Ten-m3 is a ~300 kDa type II transmembrane glycoprotein that is a member of ...
v t e v t e (Genes on human chromosome 12, Solute carrier family, All stub articles, Human chromosome 12 gene stubs, Membrane ... "Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease". Nature ... Proton myo-inositol cotransporter, also known as solute carrier family 2 member 13 is a protein that in humans is encoded by ... "SLC2A13 solute carrier family 2 member 13 [ Homo sapiens (human) ]". Retrieved 2021-04-18. Uldry M, Ibberson M, Horisberger JD ...
The mission of the National Office of Public Health Genomics is to integrate advances in human genetics into public health ... 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 ... Department of Human Genetics. Emory University School of Medicine. Atlanta, Georgia. KAREN STEINBERG, Ph.D.. Division of ...
Genome Graphs is a tool for displaying genome-wide data sets such as the results of genome-wide SNP association studies, ... browse regions: Takes you to a page with a list of all regions above the significance threshold on the left, and a Genome ... assembly: Specifies which version of the organisms genome sequence to use. *graph ... in ...: Selects which graph(s) to ... For more detailed instructions, see the Genome Graphs Users Guide. *clade: Specifies which clade the organism is in. ...
Scientists met at Harvard to discuss synthesizing all 3 billion base pairs of human DNA. ... to talk about synthesizing human DNA. ,/p,,p,Basically, they want to take all 3 billion base pairs in the human genome, ... It's made up of the same words the human genome is just more like an entire bookshelf. ,/p,,p,But it's still ... p,So, scientists want to build a synthetic human genome. What does that mean, and should we be nervous? ,/p,,p,A group of ...
Previously, human genome sequencing was simply too complex and expensive for scientists to carry out large-scale human disease ... needs to sequence thousands of complete genomes to obtain real transformational insights into the genetic basis of human ... While sequencing a single human genome is a scientific curiosity, the scientific community ... The Human Genome Project sequenced the first human genome in 2000 for about $2 billion. Then, Dr J. Craig Venter and his team ...
You must have JavaScript enabled in your web browser to use the Genome Browser ...
2021)‎. Human genome editing: recommendations. World Health Organization. https://extranet.who.int/iris/restricted/handle/10665 ...
... 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 ...
What stands out in the article is the sheer variety of systems for regulating human genome modification around the world. Not ... Countries that have reached for blanket bans on the more menacing aspects of human genome modification―like France, which ... How the Worlds Governments Have Regulated Human Genome Editing January 25, 2016 ... the human genome. On the one hand, potential abuses seem dire: from programs that empower the wealthy and privileged to choose ...
... consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. ... consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. ... The sequence of the human genome Science. 2001 Feb 16;291(5507):1304-51. doi: 10.1126/science.1058040. ... The assemblies effectively cover the euchromatic regions of the human chromosomes. More than 90% of the genome is in scaffold ...
Create timeline like this template called Human Genome Timeline in minutes with SmartDraw. SmartDraw includes timeline ... Human Genome. Create timeline like this template called Human Genome Timeline in minutes with SmartDraw. SmartDraw includes ... Human Chromosome 20 mapped 7.18.2001. Mouse Genome Sequence Published 12.5.2002. Human Genome Project Completion 2.10.2003. ... Human Chromosome 14 finished 2.23.2003. Human Chromosome Y completed 6.11.2003. Human Chromosome 7 Completed 7.12.2003. Human ...
I got my copy of "A short guide to the human genome" by Stewart Scherer today from Cold Spring Harbor Laboratory Press (2008, ... compiled a wonderful text that not only answers many of the kinds of questions that I can think to ask about the human genome, ...
Human Exceptionalism, Intelligent Design. Genome Project Raises Fears, Hopes. Nancy Pearcey. July 8, 2000. Human Exceptionalism ... Human Genome Project. chain-of-amino-acid-or-bio-molecules-called-protein-3d-illustration-stockpack-adobe-stock. Chain of amino ... Two rival groups of scientists have announced that the race to decode the human genome has ended-in a tie. J. Craig Venter, ... The principal actors had appeared in the White House last June - Francis Collins of the National Human Genome Research ...
Genome Graphs is a tool for displaying genome-wide data sets such as the results of genome-wide SNP association studies, ... browse regions: Takes you to a page with a list of all regions above the significance threshold on the left, and a Genome ... assembly: Specifies which version of the organisms genome sequence to use. *graph ... in ...: Selects which graph(s) to ... For more detailed instructions, see the Genome Graphs Users Guide. *clade: Specifies which clade the organism is in. ...
With this new information, DNA researchers can develop better treatments for human diseases. ... and analyze human genes by using DNA sequencing. ... The Human Genome Project set out to collect, store, ... Through the human genome project, scientists got to know the amino acid sequence of every human protein and they are able to ... Humans are prone to many diseases. Diagnosing these diseases is one of the main aims of the Human Genome Project. Diseases ...
Life sciences/Genetics/Genomics/Genomes/Eukaryotic genomes/Mammal genomes/Human genomes * /Life sciences/Genetics/Genomics/ ... Eleven human genomes in nine days The dawn of good, fast and cheap human genome assembly has arrived, thanks in part to ... Eleven human genomes in nine days. University of California - Santa Cruz. Journal. Nature Biotechnology. Funder. NIH/National ... "We sequenced eleven human genomes in nine days, which was unprecedented at the time," said UC Santa Cruz Research Scientist ...
Thats how many people have had their full genomes sequenced, up from just one in 2003. Since the cost to map your DNA can ...
CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran GJB6 gap junction protein, beta 6, 30kDa 604418 ... CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran GLOD5 glyoxalase domain containing 5 \N GLOD5 ... CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran GPRASP1 G protein-coupled receptor associated ... CCHMC - Human Genetics Mutation Database Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru ...
The new reference genome fills in gaps left by earlier drafts, which will help researchers better understand genetic variation ... A complete sequence of the human genome has finally been published by an international consortium of scientists. ... A complete reference genome improves analysis of human genetic variation. Complete genomic and epigenetic maps of human ... Human genome Genome Center College of Biological Sciences MIND Institute UC Davis Health DNA ...
Achieving an understanding the human genome - for example, what information is encoded in the human genome, and how it ... Genome Advance of the Month. ENCODE: Deciphering Function in the Human Genome. Roseanne F. Zhao, Ph.D.. NIH Medical Scientist ... Initially established as a pilot project focused on 1 percent of the human genome, ENCODE was scaled to whole genome analysis ... The astounding amount of gene-regulatory activity uncovered in the human genome is striking, as more of the genome encodes ...
Human Genome Assembly in 100 Minutes. View ORCID ProfileChen-Shan Chin, Asif Khalak ... Many de novo human genomes have been published in the last few years, leveraging a combination of inexpensive short-read and ... Our genome assembly implementation, Peregrine uses sparse hierarchical minimizers (SHIMMER) to index reads thereby avoiding the ... De novo genome assembly provides comprehensive, unbiased genomic information and makes it possible to gain insight into new DNA ...
Harvard held a closed meeting to discuss human genome synthesis last week, but some experts say it should have been carried out ... "Given that human genome synthesis is a technology that can completely redefine the core of what now joins all of humanity ... If you need secrecy to discuss your proposed research (synthesizing a human genome) you are doing something wrong. pic.twitter. ... According to reports, about 150 people gathered at Harvard to discuss the possibility of chemically constructing a human genome ...
You must have JavaScript enabled in your web browser to use the Genome Browser ...
... researchers have identified two inherited-genetic deletions in the human genome... ... Aggressive Prostate Cancer Risk Linked With Two Genetic Deletions In Human Genome. By Grace Rattue on April 16, 2012 ... The study shows that copy number variations (CNVs), in either protein coding or non-coding areas of the human genome, ... researchers have identified two inherited-genetic deletions in the human genome associated to the development of prostate ...
NHGRI Unveils Chimp Genome Draft, Alignment to Human Genome Dec 10, 2003 ... Draft alignments between the human and chimp genomes can be read through the University of California, Santa Cruzs Genome ... Washington University and the Broad Institute are now performing a detailed comparison between chimp and human genome sequences ... as well as its alignment to the human genome. ... The analysis in the European Journal of Human Genetics finds ...
This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a ... This report by the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a ... Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole- ... the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. ...
According to new research, as much as eight percent of the human genome consists of viruses that inserted themselves into our ... 8 Percent of Human Genome Was Inserted By Virus, and May Cause Schizophrenia. The rise of psychopharmacology has led doctors to ... According to new research, as much as eight percent of the human genome consists of viruses that inserted themselves into our ... However, no one ever thought that virus remnants formed this much of our genome, or that one of the viruses might lead to ...
A controversial new genetic comparison suggests that human and chimpanzee ancestors interbred for several million years before ... Various parts of the human genome diverged from those of chimps at times that span at least 4 million years, concludes a team ... Chimp and human lineages may have split twice as long ago as thought By Tina Hesman Saey. June 12, 2014. ... Humans Heres where jazz gets its swing By Nikk Ogasa. October 6, 2022. ...
  • 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. (wired.com)
  • UC Davis researchers contributed to the project by carrying out some of the long-read sequencing with machines at the Genome Center, and by analyzing variants and duplicated sequences. (ucdavis.edu)
  • De novo genome assembly provides comprehensive, unbiased genomic information and makes it possible to gain insight into new DNA sequences not present in reference genomes. (biorxiv.org)
  • Scientists at the University of Washington in Seattle, Washington University and the Broad Institute are now performing a detailed comparison between chimp and human genome sequences, and are planning within the next several months to publish their results, the NHGRI said. (genomeweb.com)
  • Characterizing such variants, for both point mutations and structural changes, across a range of populations is thus likely to identify many variants of functional importance and is crucial for interpreting individual genome sequences, to help separate shared variants from those private to families, for example. (nature.com)
  • But the biology and technology were developing all the time, and with the recent publication of a series of major genome-wide association studies, a flood of human sequences [page 670] and the advent of 'personal genomics', it's a good time to take stock. (natureasia.com)
  • The draft genome sequences of two species of acorn worm, which live in U-shaped burrows in shallow, brackish water, are the first genomes of hemichordates, which retain similarities to the first animals to evolve pharyngeal or "gill" slits. (biologynews.net)
  • We already had a thorough understanding of diseases linked to single genetic sequences , such as Huntington's and cystic fibrosis, but if anything, exploring the genome has taught us how complicated the relationship between genes and diseases really is. (slate.com)
  • First, we found that genetic risk variants for a variety of human diseases are located in regions of the human genome that share evolutionary origins with the mapped mouse gene regulatory sequences, suggesting that these regions of the human genome may be functional in humans, and that some of the disease risk variants in them may be affecting fetal development. (ucsd.edu)
  • The analytical power arising from the reference DNA sequences of entire genomes and other genomics resources has jump-started what some call the 'biology century. (ornl.gov)
  • Sprinkled throughout the 3.1 billion DNA bases that comprise our genome are tens of thousands of protein-coding genes, regulatory regions that stipulate when, where, and how much of these genes are expressed, palindromic repeats that stretch for thousands of bases at a clip, and even sequences that can move. (clarkesworldmagazine.com)
  • Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (nih.gov)
  • These reference sequences exist independently of genome builds. (nih.gov)
  • These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. (nih.gov)
  • This strongly suggests functional reasons for the amino acid sequences of human and ape proteins, and shows their similarities can be explained as being due to functional requirements. (evolutionnews.org)
  • Draft genome sequences of two Bison-type and two Sheep-type strains of Mycobacterium avium subspecies paratuberculosis. (usda.gov)
  • The Human Genome Project sequenced the first human genome in 2000 for about $2 billion. (pharmtech.com)
  • On June 26, 2000, both the Human Genome Project and Celera Genomics jointly announced the completion of the initial sequencing of the human genome. (britannica.com)
  • The working draft of the human genome sequence was released nearly 10 years ago, with the much-heralded announcement of its completion taking place in June 2000. (natureasia.com)
  • William Haseltine , the founder of Human Genome Sciences, predicted in 2000 that he would halve the time and money required to bring a drug to market. (slate.com)
  • In June 2000, the rough draft of the human genome was completed a year ahead of schedule. (ornl.gov)
  • Without a doubt, this is the most important, the most wondrous map ever produced by humankind," Clinton said on June 26, 2000 from the White House, predicting that genome science "will revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases. (medscape.com)
  • President Bill Clinton is flanked by Dr J. Craig Venter (left) and Dr Francis Collins announcing the first draft sequence of the human genome in June 2000. (medscape.com)
  • In April 2003, it was newly announced, after the first announcements in June 2000, that the sequencing of the human genome was completed. (medscape.com)
  • While sequencing a single human genome is a scientific curiosity, the scientific community needs to sequence thousands of complete genomes to obtain real transformational insights into the genetic basis of human disease, including cancer. (pharmtech.com)
  • We expect this research phase of human genome sequencing to last for a few years. (pharmtech.com)
  • The cost of complete human genome sequencing has decreased dramatically over the past two decades. (pharmtech.com)
  • Then, Dr J. Craig Venter and his team completed the first commercial company-sponsored sequencing of a human genome for about $100 million. (pharmtech.com)
  • Over the following 6 years, the cost of human genome sequencing dropped steadily in line with Moore's Law, which states that performance doubles every 18 months. (pharmtech.com)
  • Improvements in the seemingly disparate technologies were, in part, driven by the venture capital community looking at the relatively slow progress of human genome sequencing and identifying a market opportunity. (pharmtech.com)
  • But this wasn't easy to study: Sequencing the genome destroys its shape, and electron microscopes can barely penetrate its active surface. (wired.com)
  • A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. (nih.gov)
  • Sequencing the human genome involved laying out the entire genetic code embedded in human DNA. (britannica.com)
  • With this research, sequencing of human DNA helps a lot in the treatment of different kinds of diseases. (brighthub.com)
  • Many different techniques are employed for sequencing the human DNA. (brighthub.com)
  • Now, researchers at UC Santa Cruz 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. (eurekalert.org)
  • As a part of this work, UC Santa Cruz Genomics Institute researchers 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. (eurekalert.org)
  • In their paper , "Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes," published today in Nature Biotechnology , they describe how Shasta not only yields comparable or better accuracy as its contemporaries but also has the lowest number of misassemblies. (eurekalert.org)
  • Dennis' lab, with Professor Charles Langley at the College of Biological Sciences, took part in an NIH-led consortium that has completed sequencing of the human genome. (ucdavis.edu)
  • Sequencing a genome is rather like slicing up a book into snippets of text then trying to reconstruct the book by piecing them together again. (ucdavis.edu)
  • From uncovering the double helix of DNA to sequencing the roughly 3 billion letters of code that make up the complete genetic blueprint of humans, our inward journey of discovery has been filled with historic milestones. (genome.gov)
  • The continued advance of sequencing technologies coupled with the Peregrine assembler enables routine generation of human de novo assemblies. (biorxiv.org)
  • The sequencing of the chimpanzee Pan troglodytes , was led by Eric Lander of MIT's Broad Institute, and Richard Wilson of the Washington University Genome Sequencing Center. (genomeweb.com)
  • Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. (nature.com)
  • Recent efforts to map human genetic variation by sequencing exomes 1 and whole genomes 2 , 3 , 4 have characterized the vast majority of common single nucleotide polymorphisms (SNPs) and many structural variants across the genome. (nature.com)
  • In a paper published today in Nature genetics, scientists at deCODE genetics, a subsidiary of the pharmaceutical company Amgen, have shown that long-read DNA sequencing can be applied at population scale to unravel large structural variants that associate with human disease and other traits. (decode.com)
  • Using short-read sequencing scientists have been able to discern most small variations in the genome and population studies have allowed them to determine how they associate with diseases and other traits. (decode.com)
  • We are confident that the long-read sequencing applied at population level is going to help us to find much of the missing sequence diversity that we must have to fully understand how diversity in the sequence of the genome accounts for human diversity," says Kari Stefansson CEO and founder of deCODE genetics. (decode.com)
  • But one goal has remained out of reach: sequencing the whole genome of any Pompeian. (the-scientist.com)
  • Ten years ago, he first proposed sequencing its genome. (biologynews.net)
  • Sequencing the human genome seemed like a discovery so important that it couldn't be overhyped-we had, after all, transcribed the blueprint for human life-but biotech executives somehow managed the trick. (slate.com)
  • One April 24, 2003, scientists at the National Human Genome Research Institute (NHGRI) and the US Department of Energy (DOE) announced that they had completed the sequencing of the human genome, 50 years to the day that Nobel Prize winners James Watson and Francis Crick published the molecular structure of the DNA double helix. (exploringnature.org)
  • This amazing achievement was accomplished by The International Human Genome Sequencing Consortium and included hundreds of scientists at 20 sequencing centers in the United States, Great Britain, China, France, Germany, Japan and China. (exploringnature.org)
  • DOE JGI in Walnut Creek, California, provides state-of-the-science capabilities for genome sequencing and analysis. (ornl.gov)
  • Additional genome sequenc- the deep genome sequencing of the virus directly from a es from this virus are needed to aid diagnostics, moni- patient's sputum sample. (cdc.gov)
  • Our high-throughput sequencing tor population dynamics, identify the animal source, and yielded a substantial depth of genome sequence assembly characterize mechanisms of pathogenesis. (cdc.gov)
  • And indeed, the sequencing of the human genome - achieved simultaneously by the Human Genome Project (HGP), an international consortium begun in 1990 and led by Francis Collins, MD, then director of the National Human Genome Research Institute, and by J. Craig Venter , PhD, with his team at the privately held Celera Genomics - has revolutionized the approach to human health. (medscape.com)
  • When it started, the sequencing of the human genome did not seem like a value proposition - nor was it expected to be. (medscape.com)
  • It had been only 15 months since the international consortium of 1000 researchers across six nations began their sequencing effort in earnest, and a scant 9 months from when Venter's team starting sequencing its human genome. (medscape.com)
  • The sequencing of the human genome in the early days of this millennium was greeted with great fanfare as this accomplishment was expected to revolutionize medicine and result in individualized treatments based on the genetic make-up of the patient. (cdc.gov)
  • The NIAID Centralized Sequencing Program serves as a genomics resource for NIAID human subjects research studies. (nih.gov)
  • Any NIAID participant is eligible to receive genome sequencing and associated services through this protocol. (nih.gov)
  • Rapid scientific response, such as in the 2011 Europe E. coli outbreak, has become possible with the advancement of genomic studies such as whole-genome sequencing. (europeanpharmaceuticalreview.com)
  • Human cancer genome sequencing studies have generated ample, publicly available data, and analyses of these data have substantially broadened the knowledge of somatic mutations accumulating in tumours. (who.int)
  • A considerable fraction of the compendium of mutational signatures extracted from cancer genome sequencing studies remains without etiological explanation, and mutational signatures alone may be insufficient in explaining cancer causes. (who.int)
  • The MUTSPEC 2.0 project was developed to accommodate a highly integrated design to identify mutational (and other toxicogenomic) signatures of carcinogens derived by genome-scale sequencing analysis of mutually complementary and cross-validating systems. (who.int)
  • Consistent with this notion, one of the most remarkable findings of the international high-resolution cancer genome sequencing efforts is the high frequency of genetic alterations in ERGs (Figure 2) in common human cancer types. (who.int)
  • The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals. (genomeweb.com)
  • Using PromethION sequencers from Oxford Nanopore Technologies, researchers at deCODE genetics whole genome sequenced 3,622 Icelanders. (decode.com)
  • A consortium of Canadian and American researchers led by Dr. John D. Rioux, PhD, Associate Professor of Medicine at the Montreal Heart Institute and the Université de Montréal, report in the April 15, 2007 online edition of Nature Genetics the results from a search of the entire human genome for genetic risk factors leading to the development of Crohn's disease. (drbarrydworkin.com)
  • A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder. (genomeweb.com)
  • The new discoveries and knowledge of gained in human genetics and related biology in recent decades as well as the potential of having newer understanding and exploration have raised the expectations as well as many scientific applications for making a significant improvement in human health. (who.int)
  • The development on human genetics has started almost a century ago, from classical genetics, reverse genetics, genomics, proteomics, and to new genetics. (who.int)
  • With the advancement of biotechnology, bioinformatics, computational biology and other sciences including engineering and industrial applications, the understanding of human genetics and genomes has become much more clearer. (who.int)
  • WHO is working closely with all scientific partners in the development of appropriate guidelines and training with respect to the Ethical, Legal and Social Implications (ELSI) of human genetics and genomes for some decades. (who.int)
  • Since then, a series of scientific debates as well as national and international actions on human genetics have been carried out. (who.int)
  • Masses of international committees, commissions, advisory bodies and many reports, research papers and national and international guidelines have been produced on various issues and aspects of development of human genetics. (who.int)
  • Countries on regional perspectives of human genetics, especially ethical, legal and social implications (ELSI), which may be crucial to full utilization of scientific development. (who.int)
  • This working paper is prepared with the objective of providing brief accounts of development of human genetics and ELSI implications, and possible areas of debate in order to solicit future strategic directions and actions to be undertaken. (who.int)
  • Since the beginning of the work on human genetics in 18th century, the development can be categorized by a few historical eras. (who.int)
  • Earlier research suggests that the amino-acid composition of human FOXP2 changed rapidly around the same time that language emerged in modern humans," said Dr. Daniel Geschwind, Gordon and Virginia MacDonald Distinguished Chair in Human Genetics at the David Geffen School of Medicine at UCLA. (uclahealth.org)
  • A complete sequence of the human genome has finally been published by an international consortium of scientists. (ucdavis.edu)
  • This is a major stumbling block in the attempt to fully understand the relationship between variation in the sequence of the human genome and human diversity. (decode.com)
  • These scientists recognized that the sequence of the human genome belonged to every human being and placed all of the sequence generated by the Human Genome Project into public databases freely available to scientists around the world with no restrictions on its use. (exploringnature.org)
  • The sequence of the human genome is a living document that catalogs the history of migration, mutation, and environmental stressors that have shaped who we are and how we came to be. (clarkesworldmagazine.com)
  • Twenty years ago, President Bill Clinton announced completion of what was arguably one of the greatest advances of the modern era: the first draft sequence of the human genome. (medscape.com)
  • Since the last risk assessment on 21 May 2021, one new laboratory-confirmed human case of influenza A(H5N6) virus infection was reported from China to WHO on 30 May 2021. (who.int)
  • Eventually it will cost $1000 to sequence a complete human genome, but that is going to take a few years. (pharmtech.com)
  • Scientists on March 31 published the first complete human genome, filling in gaps remaining after previous efforts while offering new promise in the search for clues regarding disease-causing mutations and genetic variation among the world's 7.9 billion people. (pharmalive.com)
  • Results published by both groups in February 2001 declared that the human genome actually contains only about 30,000 to 40,000 genes, much fewer than originally thought. (britannica.com)
  • The original human genome sequence, published in 2001, left out about 8% of the DNA, Dennis said. (ucdavis.edu)
  • Until recently, genomic research has relied exclusively on the reference genome from a single individual selected to represent an entire species. (eurekalert.org)
  • DNA base pairs in the genome were sequenced on average at least 10 times, allowing for accurate characterization of all genomic variation within the individual. (decode.com)
  • One of the main directions of human genome research in the post-genomic eta is the study of its higher-order structure that became the key to understanding of the most important cellular processes such as cell differentiation or transformation. (muni.cz)
  • Acorn worms look very different from chordates, which makes it especially surprising that they and chordates, like humans, are so similar on the genomic, developmental and cell biological levels. (biologynews.net)
  • The grant is to accelerate development of the Mastermind Genomic Search Engine , the company's AI-driven variant interpretation engine, with a vision of curating the entire human genome. (lelezard.com)
  • Many studies have shown that large-scale genomic architecture is vital to genome functionality. (evolutionnews.org)
  • To this end, EGM developed and tested a conceptual framework (involving a pan-cancer in silico genomic and experimental strategy) to identify and orthogonally validate functionally important epidriver genes through a novel systematic approach that uses the strengths of state-of-the-art genome-editing screens (Figure 1). (who.int)
  • So, scientists want to build a synthetic human genome. (kjrh.com)
  • A group of scientists and entrepreneurs met at Harvard University recently to talk about synthesizing human DNA. (kjrh.com)
  • Scientists worked at spelling out the approximately 3.1 billion chemical "letters" that make up human DNA. (britannica.com)
  • After that, scientists must determine which part of the sequence fits on which human gene and what each gene does. (britannica.com)
  • Two rival groups of scientists have announced that the race to decode the human genome has ended-in a tie. (discovery.org)
  • Through the human genome project, scientists got to know the amino acid sequence of every human protein and they are able to develop drugs according to their requirements. (brighthub.com)
  • This is because of the understanding of the human DNA and comparing the genes, the scientists are able to identify the diseased gene/s and with research on what is wrong with the gene. (brighthub.com)
  • A final genetic split, yielding reproductively separate ancestral species of humans and chimps, transpired between 6.3 million and 5.4 million years ago, the scientists report in the June 29 Nature . (sciencenews.org)
  • Genetic detachment of human ancestors, or hominids, from chimps seems to have occurred on the X chromosome about 1.2 million years later than it did on other chromosomes, the scientists report. (sciencenews.org)
  • Scientists have found microchromosomes are the origin of all vertebrate genomes, meaning the human genome is less 'normal' than we thought. (edu.au)
  • Australian and US scientists have sequenced the first indigenous genomes, revealing southern Africans to be among the world's most genetically diverse people. (edu.au)
  • HapMap gives scientists worldwide a first good look at the "order in variety" that is the human genome. (harvard.edu)
  • Genome editing (also called gene editing) is a group of technologies that give scientists the ability to change an organism's DNA. (medlineplus.gov)
  • Have scientists proven human evolution from a 'common apelike ancestor,' or are we being told a clever, confusing story filled with farcical. (icr.org)
  • The concept of human cloning has long been in the imagination of many scientists, scholars and fiction writers [1]. (who.int)
  • The story of how a team of U.S. scientists decoded and assembled the genome of the 1918 virus. (cdc.gov)
  • The article, which appears in Science and is free to access , comes in the midst of a simmering debate about CRISPR gene editing, a powerful technique for rewriting living genomes, which has already been used at least once in (nonviable) human embryos and inspired calls for a voluntary moratorium on editing human egg, sperm, and embryonic cells. (bio-itworld.com)
  • However, the authors pointedly avoid mention of CRISPR, and while their survey covers speculative technology like gene editing and human cloning, it also looks at established practices like tests for genetic disease in embryos during in vitro fertilization (IVF). (bio-itworld.com)
  • By April 2003 researchers had completed the project, having sequenced 99 percent of the human genome's gene-containing regions. (britannica.com)
  • Such knowledge would have broad implications for a myriad of cutting edge questions in biology and medicine, including gene regulation, natural variation between individuals, disease susceptibility, and human evolution. (genome.gov)
  • Evidence has accumulated over the years that at least some of the remaining 99 percent of the genome is important for regulating gene expression, yet we lacked a global view of how much of the genome was functional, where these other functional regions were located, and in what cell types they were active. (genome.gov)
  • The astounding amount of gene-regulatory activity uncovered in the human genome is striking, as more of the genome encodes regulatory instructions than protein, and prompts an assortment of complex questions on how the genome is involved in health and disease. (genome.gov)
  • The researchers found that one genetic deletion affects the functioning of a known gene, and the other genetic deletion, identified in a non-coding region of the genome previously believed to be "junk DNA", appears to control a cascade of genes. (medicalnewstoday.com)
  • For the gene coding variant, MGAT4C, we were able to analyze metastatic human samples where we observed the high-risk gene is abundantly present. (medicalnewstoday.com)
  • According to new research, as much as eight percent of the human genome consists of viruses that inserted themselves into our DNA for replication, including the gene that causes schizophrenia. (popsci.com)
  • In this way, they assessed the extent to which humans and chimps, as well as other species combinations, shared gene variants. (sciencenews.org)
  • In addition, changes of the structure of chromosome terriories or whole human genome in the cell nucleus during differentiation and cancerogenesis will be determined and an attempt will be made to find the basic psrinciples of the epigenetic regulation of gene expression. (muni.cz)
  • The overall aim of the Human Genome Project was to completely understand and map out every human gene, the genome (2). (cram.com)
  • Also with human genemeing we have found areas in the gene that represent a certaint disorder and with medican we can help change the issue within the body. (cram.com)
  • To study the functions of large numbers of genes in vivo 2 requires a shift from gene-specific to genome-wide approaches. (nature.com)
  • Genome-wide approaches to epidermal function include short interfering RNA-based genetic screens in cultured human epidermal cells 8 and RNA interference-mediated gene knockdown via in utero microinjection of lentiviral vectors 9 . (nature.com)
  • The Genome Editing Research Group of ABRF evaluated different reagent and transfection approaches for delivering CRISPR gene editing machinery into cells. (genomeweb.com)
  • Recent years have witnessed multiple genome-wide association and large candidate gene studies, which have enriched our understanding of the genetic basis of NAFLD. (nih.gov)
  • Studies using strategies like genome-wide association and candidate gene analyses have identified a number of possible biomarkers of MDD, including serum levels of neurotrophic factors, inflammatory cytokines and HPA axis hormones, but none have proven sufficiently powerful for clinical use. (cdc.gov)
  • The complete collection of gene, which is called genome , is a set of instructions for constructing human being. (who.int)
  • The Alliance for Regenerative Medicine's (ARM) Gene Editing Task Force on Tuesday released a set of principles for human genome editing endorsed by thirteen of its members who are involved in the development of gene therapies or gene-editing technology. (genetherapynet.com)
  • While the principles endorse somatic cell gene editing and the development of regulatory standards for gene editing, the document asserts that it is too early to support any form of human germline gene editing due to unanswered ethical, legal and safety questions. (genetherapynet.com)
  • Zolgensma is designed to address the genetic root cause of SMA by providing a functional copy of the human SMN gene to halt disease progression through sustained SMN protein expression with a single, one-time intravenous (IV) infusion. (genetherapynet.com)
  • And, more significantly, the progress achieved recently in human genomics research,1 the creation of genetically-modified foods2 and the gene therapy3 have added to the major bioethical issues the Region is likely to face in the near future. (who.int)
  • To their surprise, the researchers discovered that the human and chimp forms of FOXP2 produce different effects on gene targets in the human cell lines. (uclahealth.org)
  • The research demonstrates that mutations believed to be important to FOXP2's evolution in humans change how the gene functions, resulting in different gene targets being switched on or off in human and chimp brains. (uclahealth.org)
  • Together with the recent publication of the Anzick genome, it seems that everything points towards continuity of Native Americans since the earliest settlement, rather than a more recent arrival of the ancestors of Native Americans that replaced an earlier "Paleoamerican" gene pool. (blogspot.com)
  • All human infections caused by a new influenza subtype are required to be reported under the International Health Regulations (IHR, 2005).4 This includes any influenza A virus that has demonstrated the capacity to infect a human and its haemagglutinin gene (or protein) is not a mutated form of those, i.e. (who.int)
  • The principal actors had appeared in the White House last June - Francis Collins of the National Human Genome Research Institute, and J. Craig Venter of Celera Genomics. (discovery.org)
  • J. Craig Venter, president of Celera Genomics, and Francis S. Collins, director of the National Human Genome Research Institute, joined in a White House ceremony on June 26 to announce that they've deciphered the human hereditary script. (discovery.org)
  • Funded by the National Human Genome Research Institute (NHGRI), the ENCODE Project set out to systematically identify and catalog all functional elements - parts of the genetic blueprint that may be crucial in directing how our cells function - present in our DNA. (genome.gov)
  • A key challenge in ENCODE is that different genes and functional regions are active in different cell types,' said Elise Feingold, PhD, scientific advisor for strategic implementation in the Division of Genome Sciences at the National Human Genome Research Institute, part of the NIH, and a lead on ENCODE for the institute. (ucsd.edu)
  • According to the National Human Genome Research Institute, the Human Genome Project was one of the great feats of exploration in history. (cram.com)
  • 1. Research reported in this publication was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number R43HG010446. (lelezard.com)
  • We now know that genes are only a small fraction of the complexity of the human genome," says Eric Green, MD, PhD , the current director of the National Human Genome Research Institute (NHGRI). (medscape.com)
  • In a recent review, Dr Teri Manolio from the National Human Genome Research Institute explored current and potentially encouraging near term clinical applications of GWAS, in the areas of disease risk prediction and screening, disease classification, and drug development and toxicity. (cdc.gov)
  • This illustration, courtesy of the National Human Genome Research Institute, depicts the karyotype that would represent the chromosomal configuration seen in a person with Down syndrome. (cdc.gov)
  • Katie Lewis is a genetic counselor and research coordinator at NIH's National Human Genome Research Institute (NHGRI). (medlineplus.gov)
  • We have answers from the experts at NIH's National Human Genome Research Institute. (medlineplus.gov)
  • The new reference genome fills in gaps left by earlier drafts, which will help researchers better understand genetic variation and how it can sometimes lead to disease. (ucdavis.edu)
  • The new reference genome comes from a single human sample, although not exactly a person. (ucdavis.edu)
  • In contrast, the original human reference genome was stitched together from several people, creating some errors and artifacts. (ucdavis.edu)
  • De novo assembly and annotation of the North American bison (Bison bison) reference genome and subsequent variant identification. (usda.gov)
  • This biochemical approach is an efficient way to explore the entire genome rapidly and comprehensively. (ucsd.edu)
  • We have previously described a statistically significant, global, supra-chromosomal representation of the human body that appears to extend over the entire genome. (umd.edu)
  • Curating the entire genome for meaning and actionability at scale is the next step in the evolution of using this information to improve patient care. (lelezard.com)
  • Corporations such as Celera Genomics, Human Genome Sciences, and Incyte also worked to sequence the human genome. (britannica.com)
  • Also called the Human Genome Initiative, the Human Genome Project was an international effort launched in 1988 by the National Institutes of Health and the Department of Energy to sequence all the genes on the 46 chromosomes of humans. (britannica.com)
  • What is the Human Genome Project? (brighthub.com)
  • The Human Genome Project was coordinated by US Department of Energy and the US National Institute of Health. (brighthub.com)
  • But with the completion of human genome project, there is now hope for the treatment of this disease. (brighthub.com)
  • This method is an older method and is used in the beginning part of the Human Genome Project. (brighthub.com)
  • Diagnosing these diseases is one of the main aims of the Human Genome Project. (brighthub.com)
  • Research scientist and co-author Karen Miga, who is directing the Data Production Center at UCSC for the Human Pangenome Project , points out the significance of the team's achievements in improved accuracy. (eurekalert.org)
  • that same year, a related project named modENCODE was initiated to map all of the functional regions in the worm ( C. elegans ) and fly ( D. melanogaster ) genomes. (genome.gov)
  • The Human Genome Project, 3D Animation by Bill Baker, Bakedmedia LLC. (youtube.com)
  • By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. (nature.com)
  • 5% frequency) variants were discovered in the pilot phase of the 1000 Genomes Project, lower-frequency variants, particularly those outside the coding exome, remain poorly characterized. (nature.com)
  • The Human Genome Project is an expensive, ambitious, and controversial attempt to locate and map every one of the approximately 100,000 genes in the human body. (e-booksdirectory.com)
  • Researchers at University of California San Diego School of Medicine are among the contributors to a package of 10 studies, published July 29, 2020 in the journal Nature , describing the latest results from the ongoing Encyclopedia of DNA Elements (ENCODE) project, a worldwide effort led by the National Institutes of Health (NIH) to understand how the human genome functions. (ucsd.edu)
  • Though issues of accuracy are still important to remember, it's pretty striking isn't it only 10 years on from the Human Genome Project how far we've come? (discovermagazine.com)
  • This is where the human genome project comes to the rescue. (cram.com)
  • The human genome project has a goal of achieving an "accurate sequence of the 3 billion DNA base pairs that make up the human genome and to find all of the estimated 20,000 to 25,000 human genes. (cram.com)
  • 7. Identify one finding from the Human Genome Project and discuss how it might impact our understanding of human behavior. (cram.com)
  • One finding from the Human Genome Project includes the identification of "approximately 200 disease-related genes" (Ginsberg, Nackerud & Larrison, 2004, p. 118). (cram.com)
  • Introduction The Human Genome Project was a research program that began in 1990 and took 13 years to complete (1). (cram.com)
  • The human genome project is the world's largest biological project. (cram.com)
  • 1) (20 points) The Human Genome Project (HGP) - Awesome Achievement… for what? (cram.com)
  • The Human Genome Project has guided the medical field and has chnaged many lives. (cram.com)
  • With having the human genome project you can now look into your genetrics and find mutation sin your own geneome to find out what you have or are at risk of having. (cram.com)
  • The Human Genome Project is contributing the healthcare system around the world. (cram.com)
  • HUMAN GENOME PROJECT Be it resolved that the Human Genome Project is for the well-being of the human race. (cram.com)
  • The Human Genome Project was marked by accelerated progress. (ornl.gov)
  • The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. (ornl.gov)
  • IMSEAR at SEARO: Impact of human genome project on medical practice. (who.int)
  • In his presentation, Dr. Jean Weissenbach, [ 1 ] of the University of Evry, France, summarized the status of the human genome project and the potential that the information gathered has for teaching us more about ourselves, what we are and what we can become, our potentials, and our limitations. (medscape.com)
  • What are the primary goals of the human genome project? (medscape.com)
  • The human genome project has now allowed identification of about 1500 genes involved in Mendelian diseases that can be useful in diagnostics. (medscape.com)
  • NEW YORK, Dec. 10 (GenomeWeb News) - The NHGRI unveiled today its first draft of the chimpanzee genome sequence, as well as its alignment to the human genome. (genomeweb.com)
  • One million genomes equates to 1000 genomes in 1000 different diseases. (pharmtech.com)
  • Understanding of the human DNA sequence is very important to improve the diagnosis of diseases and developing new therapies. (brighthub.com)
  • Humans are prone to many diseases. (brighthub.com)
  • Thus human DNA and genomics has brought a ray of hope for the prevention and protection against some of the diseases that afflict mankind. (brighthub.com)
  • Alphabet's venture capital arm GV led a $58.5 million investment to launch Verve Therapeutics, a new biotech focused on developing therapies that edit the human genome to treat heart diseases. (pharmalive.com)
  • The objective of the programme is the use and improvement of new biotechnologies in the study of the human genome for a better understanding of the mechanisms of genetic functions, as well as the prevention and treatment of human diseases. (europa.eu)
  • Randy Scott of Incyte Genomics claimed that, "In 10 years, we will understand the molecular basis for most human diseases. (slate.com)
  • This finding impacts our understanding of human behavior as it gives a better biological understanding of these diseases and it helps social workers to be better advocates for those who have these diseases. (cram.com)
  • The human genome has provided an effective approach to discover markers and drugs for various infectious diseases including HIV and Hepatitis C," said Ramaswamy Narayanan, PhD, a professor of biological sciences in the Charles E. Schmidt College of Science at FAU. (labmanager.com)
  • Having already curated more than 250 genes for rare diseases and cancer, this NIH funding allows us to accelerate the pace of genetic interpretation for our AI-driven curation engine, which is a crucial first step in a process that enables targeted and efficient use of expert human curators," said Mike Klein , CEO of Genomenon. (lelezard.com)
  • Genome editing is of great interest in the prevention and treatment of human diseases. (medlineplus.gov)
  • Currently, genome editing is used in cells and animal models in research labs to understand diseases. (medlineplus.gov)
  • It also holds promise for the treatment and prevention of more complex diseases , such as cancer, heart disease, mental illness, and human immunodeficiency virus (HIV) infection. (medlineplus.gov)
  • 300 common human diseases and traits. (cdc.gov)
  • If such discoveries, knowledge and technology gained are integrated into the health care systems in ethically, socially, economically and legally accepted ways, the increased benefits for diagnosis, prevention, promotion and treatment of many diseases, including human genetic conditions will be greatly appreciable in both developed and developing world. (who.int)
  • MBG excels in basic research, answering key biological questions with application in understanding the molecular basis of human diseases. (europa.eu)
  • 5. To develop innovative technologies and know-how for the benefit of human lives in line with EU directive to combat major diseases like cancer, malaria, TB and other. (europa.eu)
  • Poxviruses continue to cause serious diseases even after eradication of the historically deadly infectious human disease, smallpox. (researchgate.net)
  • Human rotavirus group A (human RV-A) is one of the diseases caused by RV infection ( 8 ). (who.int)
  • The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of five individuals. (nih.gov)
  • Additionally, ~7X coverage of the genome is in reads exceeding 100 kb in length. (eurekalert.org)
  • But these protein-coding regions make up only approximately 1 percent of the human genome, and no similar code exists for the other functional parts of the genome. (genome.gov)
  • Within this treasure trove of data, researchers found that more than 80 percent of the human genome has at least one biochemical activity. (genome.gov)
  • 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. (wired.com)
  • It still provided the most persuasive evidence to date that genome shape matters, even though the researchers' chromosome map was relatively low-resolution. (wired.com)
  • 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. (wired.com)
  • By studying the pairs, the researchers could tell which genes had been near each other in the original genome. (wired.com)
  • SANTA CRUZ, CA - May 04, 2020 - It's only been three years since UC Santa Cruz researchers proved that long-read human genome assembly using the same nanopore technology developed on campus could be done at all. (eurekalert.org)
  • 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. (eurekalert.org)
  • According to a study published online in Proceedings of the National Academy of Sciences (PNAS) , researchers have identified two inherited-genetic deletions in the human genome associated to the development of prostate cancer . (medicalnewstoday.com)
  • Due to the inheritable nature of prostate cancer, the researchers set out to find DNA that is either significantly duplicated or deleted in the genome of prostate cancer patients, in order to compare it to healthy men. (medicalnewstoday.com)
  • By spreading his search to a class of viruses ignored by other researchers due to its inability to infect primates, Tomonaga found far more viral DNA in our genome than previous studies. (popsci.com)
  • Researchers with the Abramson Cancer Center of the University of Pennsylvania, led by Carl June, published results from the first U.S. Phase I trial of CRISPR-Cas9-edited T-cells in humans with advanced cancer. (pharmalive.com)
  • Researchers started with an oversimplified view of the genome's role in human health. (slate.com)
  • Before the genome was sequenced, researchers estimated that humans had about 100,000 genes, based on the variety of proteins in the body and the now-laughable assumption that complex organisms must have more genes than simpler forms of life. (slate.com)
  • One key advantage of the mouse is that researchers have access to stages of fetal development that are difficult or impossible to study in humans. (ucsd.edu)
  • Second, our results provide important tools for researchers using mice to model human disease, helping them focus on specific tissues, developmental stages and regions of the genome that may be most relevant to their targeted disease. (ucsd.edu)
  • In Yeo's study, with first author Eric L. Van Nostrand, PhD, and colleagues, researchers introduce a new set of regulatory elements embedded in human DNA that are recognized by RNA-binding proteins that interact with these elements only when they are transcribed into RNA. (ucsd.edu)
  • It facilitated communication among genome researchers and informed persons interested in genome research. (ornl.gov)
  • The new human genome assembly could lead to better variant calling and inform cell biology studies, a consortium of researchers said at the ABRF annual meeting. (genomeweb.com)
  • These questions drove an expert group of researchers and virus hunters to search for the lost 1918 virus, sequence its genome, recreate the virus in a highly safe and regulated laboratory setting at CDC, and ultimately study its secrets to better prepare for future pandemics. (cdc.gov)
  • GlaxoSmithKline plc (LSE: GSK) today announced that it has completed its acquisition of Human Genome Sciences (NASDAQ: HGSI) for US$3.6 billion on an equity basis, or approximately US$3 billion net of cash and debt. (gsk.com)
  • Taking advantage of the fact that the Zika virus is related to various other mosquito viruses such as the dengue, yellow fever, Japanese encephalitis, West Nile, and Spondweni viruses, Ramaswamy Narayanan, PhD, a professor of biological sciences in FAU's Charles E. Schmidt College of Science, has identified 55 drug targets for the Zika virus from the human genome. (labmanager.com)
  • Basically, they want to take all 3 billion base pairs in the human genome, program them into a machine and have the machine piece it all together. (kjrh.com)
  • His team aligned 20 million base pairs from the genomes of five modern primates. (sciencenews.org)
  • The total estimated size of the human genome is 3.07 x 10E9 base pairs (bp), of which 2.864 x 10E9 bp are estimated to be euchromatine (actively transcribed genome). (medscape.com)
  • Perhaps the most striking finding in this mountain of data is the overwhelming evidence for previous work that suggested that human genetic variants located physically close to each other in the genome are collectively inherited as groups, or "haplotypes. (harvard.edu)
  • Genome-wide association studies (or GWAS) are large-scale genetic investigations of human disease that measure simultaneously hundreds of thousands of genetic variants scattered throughout the human genome. (cdc.gov)
  • Two assembly strategies-a whole-genome assembly and a regional chromosome assembly-were used, each combining sequence data from Celera and the publicly funded genome effort. (nih.gov)
  • The resulting cell ends up with two identical copies of each chromosome, unlike most human cells, which carry two slightly different copies. (ucdavis.edu)
  • Short tandem repeats located on the human Y chromosome. (flashcardmachine.com)
  • 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. (wired.com)
  • The main results of this ambitious effort have now been reported in 30 coordinated papers published in the September 6, 2012, issues of Nature , Genome Research and Genome Biology , along with additional ENCODE-funded papers in Science , Cell and Nucleic Acids Research . (genome.gov)
  • The genome provided a full parts list for the first time in biology, which was a huge contribution to biology and also drug discovery, but it didn't describe how things fit together or worked together, and that was a big problem," says University of California-San Francisco pharmacologist Brian Shoichet. (slate.com)
  • The laboratory mouse is widely used in biomedical research to model human biology and disease. (ucsd.edu)
  • The completion of the human genome sequence in 2003, though momentous, was only the first step toward grasping the core mechanisms of human biology and disease. (harvard.edu)
  • Science has long known that some components of our DNA are relics of viruses that entered into our genome in some past infection. (popsci.com)
  • After human immunodeficiency virus infection, JE may be the leading cause of viral encephalitis worldwide. (cdc.gov)
  • Human papillomavirus ( HPV ) infection must be present for cervical cancer to occur. (medscape.com)
  • Recognition of the etiologic role of human papillomavirus ( HPV ) infection in cervical cancer has led to the recommendation of adding HPV testing to the screening regimen in women 30-65 years of age (see Workup). (medscape.com)
  • Organization has reported 182 laboratory-confirmed cases of MERS-CoV infection, including 79 deaths, indicating an ongoing risk for transmission to humans in the Arabian Peninsula. (cdc.gov)
  • Modeling performed to assess the extent of human infection and the transmission potential of MERS-CoV, as of August 2013, estimated that most symptomatic case-patients had not been detected but that chains of transmission were not self-sustaining when infection control was implemented. (cdc.gov)
  • However, more epidemiologic data linking cases to infected animals are needed to determine whether a particular animal species is a host for the virus, a source of human infection, or both. (cdc.gov)
  • Although RESTV has been identified in humans, there was no death or illness attributed to the infection. (who.int)
  • Prompt diagnosis of human immunodeficiency virus (HIV) infection is critical. (medscape.com)
  • A(H1N2) variant viruses and one human case of infection with an influenza A(H3N2) variant virus were reported officially.3 One additional human case of infection with an influenza A(H1N1)v virus was detected. (who.int)
  • 1. What is the likelihood that additional human cases of infection with avian influenza A(H5) viruses will occur? (who.int)
  • Good quality serological investigations may be useful in differentiating infection from contamination in these cases and allow for better assessment of the risk of human infection. (who.int)
  • In 2002 he argued that only about 10 percent of human genes produce proteins that could bind to a small molecule, which is the form most drugs come in. (slate.com)
  • Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research. (ornl.gov)
  • ART is the mainstay in human immunodeficiency virus (HIV) treatment. (medscape.com)
  • Our study is the first large-scale genome-wide tissue phenotype screen from the International Knockout Mouse Consortium and provides an open access resource for the scientific community. (nature.com)
  • SNPs are responsible for variation in phenotype and biological function for nearly all pathways in the human body, contributing to differences in skin, eye, and hair color, as well as how we digest foods, how we metabolize drugs, and how we respond to our environment. (clarkesworldmagazine.com)
  • Of the 50 mutants with an epidermal phenotype, 9 map to human genetic conditions with skin abnormalities. (nature.com)
  • The Wallacean Islands formed stepping stones in the spread of the first modern humans from Eurasia to Oceania, probably more than 50,000 years ago. (mpg.de)
  • The analysis showed that the Leang Panninge individual was related to the first modern humans to spread to Oceania from Eurasia some 50,000 years ago. (mpg.de)
  • It is estimated that the entire human genome consists of 50,000 to 100,00 genes. (who.int)
  • Analysis of the genome sequence revealed 26,588 protein-encoding transcripts for which there was strong corroborating evidence and an additional approximately 12,000 computationally derived genes with mouse matches or other weak supporting evidence. (nih.gov)
  • Sub-cellular organization is significantly mapped onto the human genome: Evidence is reported for a "cellunculus" -- on the model of a homunculus, on the H. sapiens genome. (umd.edu)
  • Yes, some of the 13 major classes of scientific evidence and arguments discussed by Venema are relevant to the question of a common ancestry linking apes and humans, but the book spends little time saying what that has to do with Bible's first couple. (evolutionnews.org)
  • Biologist Ann Gauger looked at one of the initially strongest arguments against Adam and Eve from human genetic diversity (HLA genes) and found the evidence is compatible with our descending from an initial couple. (evolutionnews.org)
  • Two peer-reviewed papers and a book chapter have already been published in the ID-community related to modeling these questions, and early evidence suggests that an initial pair is capable of explaining human genetic diversity. (evolutionnews.org)
  • Evidence suggests that MERS-CoV is capable of limited human-to-human transmission, which results in outbreaks in family and health care settings. (cdc.gov)
  • Even though small clusters of A(H5) virus infections have been reported previously including those involving healthcare workers, current epidemiological and virological evidence suggests that influenza A(H5) viruses have not acquired the ability of sustained transmission among humans, thus the likelihood is low. (who.int)
  • On 29 June 1990 the Council of the European Communities adopted a Decision concerning a specific research and technological development programme in the field of health: human genome analysis (1990-1991). (europa.eu)
  • The following presentation contains content made by external presenters and not by the Centers for Disease Control and Prevention or the Department of Health and Human Services. (cdc.gov)
  • 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. (wired.com)
  • The assemblies effectively cover the euchromatic regions of the human chromosomes. (nih.gov)
  • The order of bases on all twenty-three pairs of human chromosomes. (flashcardmachine.com)
  • The manuscripts describe both the content and uses of HapMap, a catalog that maps human genetic variation and relates it both to disease and to human evolutionary history. (harvard.edu)
  • Once these genome centres have sequenced one million genomes, the medical research community will have a greater understanding of the genetic basis of human disease, unlike any it has had in the past, leading to the development of better diagnostics and therapeutics that improve human health. (pharmtech.com)
  • While most countries do want some level of oversight in procedures that create living people with edited genomes, ambiguous laws can also end up restricting basic research, which may or may not be legislators' intent. (bio-itworld.com)
  • We sequenced eleven human genomes in nine days, which was unprecedented at the time," said UC Santa Cruz Research Scientist Miten Jain. (eurekalert.org)
  • This includes enabling pangenome research to represent the true scale of human diversity, a decidedly more practical pursuit. (eurekalert.org)
  • In the more immediate future, the synthesized genome could be used for research. (bostonmagazine.com)
  • If you need secrecy to discuss your proposed research (synthesizing a human genome) you are doing something wrong. (bostonmagazine.com)
  • The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of personally identifiable genetic, phenotypic, and clinical data generated for the purposes of biomedical research projects or in the context of research-focused healthcare systems. (ega-archive.org)
  • GlaxoSmithKline - one of the world's leading research-based pharmaceutical and healthcare companies - is committed to improving the quality of human life by enabling people to do more, feel better and live longer. (gsk.com)
  • The All of Us Research Program is an ambitious endeavor to collect and study data from 1 million ethnically and geographically diverse people in order to better understand the human genome. (mailtribune.com)
  • Their results have two major implications for human disease research, said Ren. (ucsd.edu)
  • It wasn't even until 2014 that the National Institutes of Health (NIH) mandated that all preclinical research consider sex as a biological factor in human and animal research studies. (clarkesworldmagazine.com)
  • A new study published today in the journal Genome Research reports a tumour-specific mutation spectrum introduced into the genome by glycidamide, which is a metabolite of acrylamide. (who.int)
  • The collaborative study, led by the Molecular Mechanisms and Biomarkers Group at the International Agency for Research on Cancer (IARC), has now established the presence of a distinctive fingerprint of glycidamide-induced changes in the genome. (who.int)
  • What are genome editing and CRISPR-Cas9? (medlineplus.gov)
  • Several approaches to genome editing have been developed. (medlineplus.gov)
  • The CRISPR-Cas9 system has generated a lot of excitement in the scientific community because it is faster, cheaper, more accurate, and more efficient than other genome editing methods. (medlineplus.gov)
  • CRISPR-Cas9 was adapted from a naturally occurring genome editing system that bacteria use as an immune defense. (medlineplus.gov)
  • Ethical concerns arise when genome editing, using technologies such as CRISPR-Cas9, is used to alter human genomes. (medlineplus.gov)
  • Most of the changes introduced with genome editing are limited to somatic cells, which are cells other than egg and sperm cells (germline cells). (medlineplus.gov)
  • Germline cell and embryo genome editing bring up a number of ethical challenges, including whether it would be permissible to use this technology to enhance normal human traits (such as height or intelligence). (medlineplus.gov)
  • Based on concerns about ethics and safety, germline cell and embryo genome editing are currently illegal in the United States and many other countries. (medlineplus.gov)
  • 1. Data mapped to E. coli genome NC_000913.2. (nih.gov)
  • Complete genome sequence of Escherichia coli Antibiotic-Resistance Isolate AR Bank #0346. (usda.gov)
  • This ultimate biomedical goal also requires a comprehensive catalog of the genetic diversity in the human genome sequence across human populations. (harvard.edu)
  • The high degree of human genetic diversity refutes Adam and Eve as the initial parents of humanity. (evolutionnews.org)
  • For more details, please see " Adam and the Genome and Human Genetic Diversity ," " Adam and the Genome and Citation Bluffing ," and " Adam and the Genome and 'Predetermined Conclusions' . (evolutionnews.org)
  • Duplications of segmental blocks, ranging in size up to chromosomal lengths, are abundant throughout the genome and reveal a complex evolutionary history. (nih.gov)
  • Achieving an understanding the human genome - for example, what information is encoded in the human genome, and how it functions and interacts with the environment - is an exciting scientific undertaking because of its potential to reveal key insights into how our DNA gives rise to all of the proteins required for building a human being. (genome.gov)
  • Not only did the evolutionary parting of human from chimpanzee ancestors occur more recently than had been indicated by previous data, but it also played out over an extended period during which forerunners of people and chimps interbred. (sciencenews.org)
  • Something very unusual happened at the time of [human-chimpanzee] speciation," Reich says. (sciencenews.org)
  • We found that a significant number of the newly identified targets are expressed differently in human and chimpanzee brains," Geschwind said. (uclahealth.org)
  • Like the genome of the indigenous inhabitants of New Guinea and Australia, the Leang Panninge individual's genome contained traces of Denisovan DNA. (mpg.de)
  • Both of these measurements are a much higher percentage than the previous estimates that 5-10 percent of the genome was functional. (genome.gov)
  • This means that we need to test a large and diverse number of biological samples to work towards a catalog of candidate functional elements in the genome. (ucsd.edu)
  • The public data were shredded into 550-bp segments to create a 2.9-fold coverage of those genome regions that had been sequenced, without including biases inherent in the cloning and assembly procedure used by the publicly funded group. (nih.gov)
  • Shasta is an in-memory computing-driven algorithm that can now help complete a de novo (new, never before processed) human genome assembly in under six hours, the authors say, for an average cost of $70 per sample. (eurekalert.org)
  • Our genome assembly implementation, Peregrine uses s parse hi erarchical m ini m iz er s (SHIMMER) to index reads thereby avoiding the need for an all-to-all read comparison step. (biorxiv.org)
  • The man's genome assembly had just 0.42x coverage, indicating that the reads had little overlap, and there were gaps. (the-scientist.com)
  • A pseudomolecule assembly of the Rocky Mountain elk genome. (usda.gov)
  • Mediumchain acyl-CoA dehydrogenase deficiency: human genome epidemiology review. (cdc.gov)
  • It was headed by Johannes Krause of the Max Planck Institutes for Evolutionary Anthropology (Leipzig) and the Science of Human History (Jena), Cosimo Posth of the Senckenberg Centre for Human Evolution and Palaeoenvironment at the University of Tübingen, and Adam Brumm of Griffith University, Australia. (mpg.de)
  • This brings new surprises about the evolution of modern humans. (mpg.de)
  • Its newly sequenced genome is telling biologists about the genes responsible for pharyngeal gills The newly sequenced genomes of two marine worms are shedding light on the 570 million-year evolution of gills into the pharynx that today gives humans the ability to bite, chew, swallow and speak. (biologynews.net)
  • Published Nov. 11 in the online edition of the journal Nature, the findings provide insight into the evolution of the human brain and may point to possible drug targets for human disorders characterized by speech disruption, such as autism and schizophrenia. (uclahealth.org)
  • The discovery will provide insight into the evolution of humans' ability to learn through the use of higher cognitive skills, such as perception, intuition and reasoning. (uclahealth.org)
  • This third series of published papers includes descriptions of millions of candidate DNA "switches" from the human and mouse genomes that appear to regulate when and where genes are turned on, a new registry that assigns a portion of these DNA switches to useful biological categories and new visualization tools to assist in the use of ENCODE's large datasets. (ucsd.edu)
  • In the foreseeable future, further interrogation of the genome may serve as the basis for development of new personalized medicine strategies for diagnosis and treatment of MDD. (cdc.gov)
  • The study shows that copy number variations (CNVs), in either protein coding or non-coding areas of the human genome, specifically plays a considerable role in the development of aggressive prostate cancer , and cancer in general. (medicalnewstoday.com)
  • In-depth analysis of three mutants, Krt76, Myo5a (a model of human Griscelli syndrome) and Mysm1 , provides validation of the screen. (nature.com)
  • Various parts of the human genome diverged from those of chimps at times that span at least 4 million years, concludes a team led by geneticist David Reich of Harvard Medical School in Boston. (sciencenews.org)
  • There exist shared "nonfunctional" pseudogenes between humans and chimps and other organisms. (evolutionnews.org)
  • If humans are genetically related to chimps, why did our brains develop the innate ability for language and speech while theirs did not? (uclahealth.org)
  • The team used a combination of human cells and post-mortem brain tissue from both chimps and humans who died of natural causes. (uclahealth.org)
  • This study demonstrates how critical chimps and macaques are for studying humans," Preuss said. (uclahealth.org)
  • Specifically, the authors do not provide an adequate basis for their assertion that 41% of the genes in the human genome have been claimed. (ssrn.com)
  • To reflect true human diversity, UC Santa Cruz has embarked on a pangenomic initiative to sequence 350 new, individual human genomes. (eurekalert.org)
  • For half a day, from 2 to 7 p.m. Saturday, Oct. 1, visitors to ScienceWorks Hands-On Museum can enjoy food trucks and interactive exhibits while gaining a deeper understanding of the diversity of the human genome. (mailtribune.com)
  • These barriers will remain until our knowledge of the genome is complete by examining the true diversity and representation of genetic variation within all of the world's communities. (clarkesworldmagazine.com)
  • SNPs are the dominant reason for the beautiful and incredible diversity of phenotypes that humans exhibit. (clarkesworldmagazine.com)
  • Full fore early 2012, suggesting the human diversity is the result genomes from 2 epidemiologically unlinked novel CoV in- of multiple zoonotic events. (cdc.gov)
  • At Complete Genomics, we expect to sequence 1 million human genomes over the next few years with the creation of a network of 10 international genome centres. (pharmtech.com)
  • Now, I'm confident that we'll be easily assembling hundreds of de novo genomes in the next couple of years. (eurekalert.org)
  • Many de novo human genomes have been published in the last few years, leveraging a combination of inexpensive short-read and single-molecule long-read technologies. (biorxiv.org)
  • According to reports, about 150 people gathered at Harvard to discuss the possibility of chemically constructing a human genome-essentially creating, in a laboratory, the genetic materials that make up a human being-within the next 10 years. (bostonmagazine.com)
  • That came as a surprise, because we do know of the spread of modern humans from eastern Asia into the Wallacea region - but that took place far later, around 3,500 years ago. (mpg.de)
  • Since acorn worms and the human lineage diverged 570 million years ago, pharyngeal slits for filtering food evolved into gills for extracting oxygen, and later into today's human upper and lower jaw and pharynx, which encompasses the thyroid gland, tongue, larynx (voice box) and various glands and muscles between the mouth and the throat. (biologynews.net)
  • The human genome was sequenced about 13 years ago. (slate.com)
  • Almost 13 years after the map of the human genome was published to great fanfare in Science and Nature, it's fair to ask where all the miracle drugs are. (slate.com)
  • There hasn't been a pharmaceutical developed in last 20 years that hasn't utilized genome information," Venter told Medscape Medical News . (medscape.com)
  • Over the years other theorists who followed Freud (Jung, Adler, Rank, Sullivan) modified some of its basic tenets and psychoanalytic theory became highly elaborated into a fascinating, intricate accounting for human personality and deviancy, eventually gaining quite general acceptance. (dissidentvoice.org)
  • Vaccines, Whitehouse Station, NJ, USA) contains a lowing criteria: 1) hospitalized children 5 years of age mixture of five human serotypes G1-G4 and P[8]. (who.int)
  • Only 1.1% of the genome is spanned by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA. (nih.gov)
  • There is concern in the Philippines that RESTV will continue to occur in animals with spillover into humans and could one day become pathogenic to humans. (who.int)
  • 1,10,12,13 It has been hypothesized that ongoing, undetected RESTV infections and replication in pigs and other animals could result in the emergence of more pathogenic viruses in humans and/or livestock. (who.int)
  • We believe that scientific understanding and precision in legal definitions of what constitutes a human embryo and/or its germ line are essential to developing coherent policies," the authors write. (bio-itworld.com)
  • Excluded from the objectives is the alteration of germ cells or any stage of embryo development with the aim of modifying human genetic characteristics in a hereditary manner. (europa.eu)
  • Countries that have reached for blanket bans on the more menacing aspects of human genome modification―like France, which legislates against "crimes against the human species"―may find their laws unenforceable, or else so broad that they scare off useful medical innovations. (bio-itworld.com)
  • 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," they wrote, adding that theologians, ethicists, and philosophers should be consulted. (bostonmagazine.com)
  • Until every last species has had its genome entirely sequenced, until we know what every last nucleotide does in every genome, there must be room for alternative ideas. (nationalgeographic.com)
  • This is reproductive cloning, and can in theory be applied to any species of mammals, including humans. (who.int)
  • We also know that within humans (and other animal species) there are cells called stem cells. (who.int)
  • Genetic changes between the human and chimp species hold the clues for how our brains developed their capacity for language," said first author Genevieve Konopka, a postdoctoral fellow in neurology at the David Geffen School of Medicine at UCLA. (uclahealth.org)
  • The results suggested the Pompeian man was genetically similar to modern Mediterranean populations and, when compared to other published genomes from ancient Rome, that he was closely related "to Imperial Roman Age individuals," Scorrano says, adding that that's what the team expected to find. (the-scientist.com)
  • Accordingly, major haplotypes have now been determined in major human populations. (medscape.com)
  • The QIAamp Circulating Nucleic Acid Kit enables efficient purification of these circulating nucleic acids from human plasma or serum and other cell-free body fluids. (qiagen.com)
  • But recovering enough material to assemble a complete genome from the destroyed city is challenging, he adds. (the-scientist.com)
  • Still, the quality and quantity of the woman's DNA were not sufficient to assemble her genome. (the-scientist.com)
  • The completion of the human DNA sequence in the spring of 2003 coincided with the 50th anniversary of Watson and Crick's description of the fundamental structure of DNA. (ornl.gov)
  • It focused on debating the outcome and implications, for our daily life and our way of thinking, that stem from the recent completion of the human genome sequence. (medscape.com)