A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.
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.
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.
The systematic study of the complete DNA sequences (GENOME) of organisms.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The theory that human CHARACTER and BEHAVIOR are shaped by the GENES that comprise the individual's GENOTYPE rather than by CULTURE; ENVIRONMENT; and individual choice.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
The protection of genetic information about an individual, family, or population group, from unauthorized disclosure.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Any method used for determining the location of and relative distances between 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.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
Databases devoted to knowledge about specific genes and gene products.
The genetic complement of a BACTERIA as represented in its DNA.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Genotypic differences observed among individuals in a population.
The complete genetic complement contained in a DNA or RNA molecule in a virus.
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.
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.
Sequential operating programs and data which instruct the functioning of a digital computer.
Extensive collections, reputedly complete, of facts and data garnered from material of a specialized subject area and made available for analysis and application. The collection can be automated by various contemporary methods for retrieval. The concept should be differentiated from DATABASES, BIBLIOGRAPHIC which is restricted to collections of bibliographic references.
A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).
A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.
The genetic complement of a plant (PLANTS) as represented in its DNA.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
The relationships of groups of organisms as reflected by their genetic makeup.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the 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.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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 complete gene complement contained in a set of chromosomes in a fungus.
Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.
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)
The complete genetic complement contained in a set of CHROMOSOMES in a protozoan.
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 genetic complement of MITOCHONDRIA as represented in their DNA.
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.
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
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.
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.
Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.
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.
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)
The addition of descriptive information about the function or structure of a molecular sequence to its MOLECULAR SEQUENCE DATA record.

A proposal for a standard CORBA interface for genome maps. (1/315)

MOTIVATION: The scientific community urgently needs to standardize the exchange of biological data. This is helped by the use of a common protocol and the definition of shared data structures. We have based our standardization work on CORBA, a technology that has become a standard in the past years and allows interoperability between distributed objects. RESULTS: We have defined an IDL specification for genome maps and present it to the scientific community. We have implemented CORBA servers based on this IDL to distribute RHdb and HuGeMap maps. The IDL will co-evolve with the needs of the mapping community. AVAILABILITY: The standard IDL for genome maps is available at http:// corba.ebi.ac.uk/RHdb/EUCORBA/MapIDL.htm l. The IORs to browse maps from Infobiogen and EBI are at http://www.infobiogen.fr/services/Hugemap/IOR and http://corba.ebi.ac.uk/RHdb/EUCORBA/IOR CONTACT: [email protected], [email protected]  (+info)

Should insurance pay for preventive services suggested by genetics? (2/315)

Physicians, plans and patients are discovering that the promise of genetic testing will be hard to fulfill. Even when a test can show predisposition toward a disease, performing it can't necessarily improve medical outcomes. Unfortunately, doing these tests can have some unintended negative effects.  (+info)

The future of molecular genetic testing. (3/315)

The potential applications for genetic testing are immense, with most diseases having some aspect influenced by, if not directly caused by, changes in the genome of the patient. The translation of genetic information into medical applications will be influenced by our understanding of the human genome, technological advances, and social, ethical, and legal issues surrounding genetic testing. With time, new genetic information will be translated into clinical tests for the diagnosis of current illness and prediction of future disease risk, and will be used for the development of genetically directed therapies and preventive interventions. Most genetic testing will be highly automated, with only rare genetic disease tests performed manually. The challenge for the clinical genetic laboratory is to keep pace with this information explosion to provide state-of-the-art genetic testing and to ensure that the genetic test results are used in a morally, ethically, and socially responsible way.  (+info)

Indigenous peoples and the morality of the Human Genome Diversity Project. (4/315)

In addition to the aim of mapping and sequencing one human's genome, the Human Genome Project also intends to characterise the genetic diversity of the world's peoples. The Human Genome Diversity Project raises political, economic and ethical issues. These intersect clearly when the genomes under study are those of indigenous peoples who are already subject to serious economic, legal and/or social disadvantage and discrimination. The fact that some individuals associated with the project have made dismissive comments about indigenous peoples has confused rather than illuminated the deeper issues involved, as well as causing much antagonism among indigenous peoples. There are more serious ethical issues raised by the project for all geneticists, including those who are sympathetic to the problems of indigenous peoples. With particular attention to the history and attitudes of Australian indigenous peoples, we argue that the Human Genome Diversity Project can only proceed if those who further its objectives simultaneously: respect the cultural beliefs of indigenous peoples; publicly support the efforts of indigenous peoples to achieve respect and equality; express respect by a rigorous understanding of the meaning of equitable negotiation of consent, and ensure that both immediate and long term economic benefits from the research flow back to the groups taking part.  (+info)

The involvement of genome researchers in high school science education. (5/315)

The rapid accumulation of genetic information generated by the Human Genome Project and related research has heightened public awareness of genetics issues. Education in genome science is needed at all levels in our society by specific audiences and the general public so that individuals can make well-informed decisions related to public policy and issues such as genetic testing. Many scientists have found that an effective vehicle for reaching a broad sector of society is through high school biology courses. From an educational perspective, genome science offers many ways to meet emerging science learning goals, which are influencing science teaching nationally. To effectively meet the goals of the science and education communities, genome education needs to include several major components-accurate and current information about genomics, hands-on experience with DNA techniques, education in ethical decision-making, and career counseling and preparation. To be most successful, we have found that genome education programs require the collaborative efforts of science teachers, genome researchers, ethicists, genetic counselors, and business partners. This report is intended as a guide for genome researchers with an interest in participating in pre-college education, providing rationale for their involvement and recommendations for ways they can contribute, and highlighting a few exemplary programs. World Wide Web addresses for all of the programs discussed in this report are given in Table 1. We are developing a database of outreach programs offering genetics education () and request that readers submit an entry describing their programs. We invite researchers to contact us for more information about activities in their local area.  (+info)

A human genome map of comparative anchor tagged sequences. (6/315)

Effective comparative mapping inference utilizing developing gene maps of animal species requires the inclusion of anchored reference loci that are homologous to genes mapped in the more "gene-dense" mouse and human maps. Nominated anchor loci, termed comparative anchor tagged sequences (CATS), have been ordered in the mouse linkage map, but due to the dearth of common polymorphisms among human coding genes have not been well represented in human linkage maps. We present here an ordered framework map of 314 comparative anchor markers in humans based on mapping analysis in the Genebridge 4 panel of radiation hybrid cell lines, plus empirically optimized CATS PCR primers which detect these markers. The ordering of these homologous gene markers in human and mouse maps provides a framework for comparative gene mapping of representative mammalian species.  (+info)

Toward real-world sequencing by microdevice electrophoresis. (7/315)

We report results using a microdevice for DNA sequencing using samples from chromosome 17, obtained from the Whitehead Institute Center for Genome Research (WICGR) production line. The device had an effective separation distance of 11.5 cm and a lithographically defined injection width of 150 microm. The four-color raw data were processed, base-called by the sequencing software Trout, and compared to the corresponding ABI 377 sequence from WICGR. With a criteria of 99% accuracy, we achieved average continuous reads of 505 bases in 27 min with 3% linear polyacrylamide (LPA) at 150 V/cm, and 460 bases in 22 min with 4% LPA at 200 V/cm at a temperature of 45 degrees C. In the best case, up to 565 bases could be base-called with the same accuracy in <25 min. In some instances, Trout allowed for accurate base-calling down to a resolution R as low as R = 0.35. This may be due in part to the high signal-to-noise ratio of the microdevice. Unlike many results reported on capillary machines, no additional sample cleanup other than ethanol precipitation was required. In addition, DNA fragment biasing (i.e., discrimination against larger fragments) was reduced significantly through the unique sample injection mechanism of the microfabricated device. This led to increased signal strength for long fragments, which is of great importance for the high performance of the microdevice.  (+info)

The molecular biology database collection: an online compilation of relevant database resources. (8/315)

The Molecular Biology Database Collection represents an effort geared at making molecular biology database resources more accessible to biologists. This online resource, available at http://www.oup.co.uk/nar/Volume_28/Issue_01/html /gkd115_gml.html, is intended to serve as a searchable, up-to-date, centralized jumping-off point to individual Web sites. An emphasis has also been placed on including databases where new value is added to the underlying data by virtue of curation, new data connections, or other innovative approaches.  (+info)

The Human Genome Project (HGP) is a large-scale international scientific research effort to determine the base pair sequence of the entire human genome, reveal the locations of every gene, and map all of the genetic components associated with inherited diseases. The project was completed in 2003, two years ahead of its original schedule.

The HGP has significantly advanced our understanding of human genetics, enabled the identification of genetic variations associated with common and complex diseases, and paved the way for personalized medicine. It has also provided a valuable resource for biological and medical research, as well as for forensic science and other applications.

A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.

The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.

Medical genetics is the branch of medicine that involves the study of inherited conditions and diseases, as well as the way they are passed down through families. It combines elements of clinical evaluation, laboratory testing, and genetic counseling to help diagnose, manage, and prevent genetic disorders. Medical genetics also includes the study of genetic variation and its role in contributing to both rare and common diseases. Additionally, it encompasses the use of genetic information for pharmacological decision making (pharmacogenomics) and reproductive decision making (preimplantation genetic diagnosis, prenatal testing).

Genomics is the scientific study of genes and their functions. It involves the sequencing and analysis of an organism's genome, which is its complete set of DNA, including all of its genes. Genomics also includes the study of how genes interact with each other and with the environment. This field of study can provide important insights into the genetic basis of diseases and can lead to the development of new diagnostic tools and treatments.

A genome is the complete set of genetic material (DNA, or in some viruses, RNA) present in a single cell of an organism. It includes all of the genes, both coding and noncoding, as well as other regulatory elements that together determine the unique characteristics of that organism. The human genome, for example, contains approximately 3 billion base pairs and about 20,000-25,000 protein-coding genes.

The term "genome" was first coined by Hans Winkler in 1920, derived from the word "gene" and the suffix "-ome," which refers to a complete set of something. The study of genomes is known as genomics.

Understanding the genome can provide valuable insights into the genetic basis of diseases, evolution, and other biological processes. With advancements in sequencing technologies, it has become possible to determine the entire genomic sequence of many organisms, including humans, and use this information for various applications such as personalized medicine, gene therapy, and biotechnology.

Genetic determinism is a philosophical concept that suggests that our genetic makeup is the sole determining factor for our traits, behaviors, and diseases. According to this perspective, our genes dictate our development, personality, health outcomes, and other aspects of our lives, with little or no influence from environmental factors or personal choices.

However, this view has been largely discredited by modern genetic research, which has shown that the relationship between genes and traits is much more complex than previously thought. Most traits are influenced by a combination of multiple genes (known as polygenic inheritance) and environmental factors, making it difficult to predict outcomes based solely on genetics.

It's important to note that while our genes can influence our risk for certain diseases or conditions, they do not determine our destiny. Lifestyle choices, environment, and other factors can also play a significant role in shaping our health and well-being.

MedlinePlus is not a medical term, but rather a consumer health website that provides high-quality, accurate, and reliable health information, written in easy-to-understand language. It is produced by the U.S. National Library of Medicine, the world's largest medical library, and is widely recognized as a trusted source of health information.

MedlinePlus offers information on various health topics, including conditions, diseases, tests, treatments, and wellness. It also provides access to drug information, medical dictionary, and encyclopedia, as well as links to clinical trials, medical news, and patient organizations. The website is available in both English and Spanish and can be accessed for free.

Genetic privacy is the right to control access to and use of one's genetic information. It refers to the protection of an individual's genetic data from unauthorized or unwanted disclosure, collection, storage, use, or dissemination. Genetic privacy is a subset of medical privacy and is becoming increasingly important as advances in genetic testing and research make it possible to identify and analyze an individual's DNA.

Genetic information can reveal sensitive personal details about an individual's health status, ancestry, and susceptibility to certain diseases. As such, the unauthorized disclosure or misuse of this information can have serious consequences for an individual's privacy, employment opportunities, insurance coverage, and overall well-being. Therefore, genetic privacy is a critical component of medical ethics and healthcare policy, and it is protected by various laws and regulations in many countries around the world.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

Inborn genetic diseases, also known as inherited genetic disorders, are conditions caused by abnormalities in an individual's DNA that are present at conception. These abnormalities can include mutations, deletions, or rearrangements of genes or chromosomes. In many cases, these genetic changes are inherited from one or both parents and may be passed down through families.

Inborn genetic diseases can affect any part of the body and can cause a wide range of symptoms, which can vary in severity depending on the specific disorder. Some genetic disorders are caused by mutations in a single gene, while others are caused by changes in multiple genes or chromosomes. In some cases, environmental factors may also contribute to the development of these conditions.

Examples of inborn genetic diseases include cystic fibrosis, sickle cell anemia, Huntington's disease, Duchenne muscular dystrophy, and Down syndrome. These conditions can have significant impacts on an individual's health and quality of life, and many require ongoing medical management and treatment. In some cases, genetic counseling and testing may be recommended for individuals with a family history of a particular genetic disorder to help them make informed decisions about their reproductive options.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Computational biology is a branch of biology that uses mathematical and computational methods to study biological data, models, and processes. It involves the development and application of algorithms, statistical models, and computational approaches to analyze and interpret large-scale molecular and phenotypic data from genomics, transcriptomics, proteomics, metabolomics, and other high-throughput technologies. The goal is to gain insights into biological systems and processes, develop predictive models, and inform experimental design and hypothesis testing in the life sciences. Computational biology encompasses a wide range of disciplines, including bioinformatics, systems biology, computational genomics, network biology, and mathematical modeling of biological systems.

Sequence Tagged Sites (STSs) are specific, defined DNA sequences that are mapped to a unique location in the human genome. They were developed as part of a physical mapping strategy for the Human Genome Project and serve as landmarks for identifying and locating genetic markers, genes, and other features within the genome. STSs are typically short (around 200-500 base pairs) and contain unique sequences that can be amplified by PCR, allowing for their detection and identification in DNA samples. The use of STSs enables researchers to construct physical maps of large genomes with high resolution and accuracy, facilitating the study of genome organization, variation, and function.

A genetic database is a type of biomedical or health informatics database that stores and organizes genetic data, such as DNA sequences, gene maps, genotypes, haplotypes, and phenotype information. These databases can be used for various purposes, including research, clinical diagnosis, and personalized medicine.

There are different types of genetic databases, including:

1. Genomic databases: These databases store whole genome sequences, gene expression data, and other genomic information. Examples include the National Center for Biotechnology Information's (NCBI) GenBank, the European Nucleotide Archive (ENA), and the DNA Data Bank of Japan (DDBJ).
2. Gene databases: These databases contain information about specific genes, including their location, function, regulation, and evolution. Examples include the Online Mendelian Inheritance in Man (OMIM) database, the Universal Protein Resource (UniProt), and the Gene Ontology (GO) database.
3. Variant databases: These databases store information about genetic variants, such as single nucleotide polymorphisms (SNPs), insertions/deletions (INDELs), and copy number variations (CNVs). Examples include the Database of Single Nucleotide Polymorphisms (dbSNP), the Catalogue of Somatic Mutations in Cancer (COSMIC), and the International HapMap Project.
4. Clinical databases: These databases contain genetic and clinical information about patients, such as their genotype, phenotype, family history, and response to treatments. Examples include the ClinVar database, the Pharmacogenomics Knowledgebase (PharmGKB), and the Genetic Testing Registry (GTR).
5. Population databases: These databases store genetic information about different populations, including their ancestry, demographics, and genetic diversity. Examples include the 1000 Genomes Project, the Human Genome Diversity Project (HGDP), and the Allele Frequency Net Database (AFND).

Genetic databases can be publicly accessible or restricted to authorized users, depending on their purpose and content. They play a crucial role in advancing our understanding of genetics and genomics, as well as improving healthcare and personalized medicine.

A bacterial genome is the complete set of genetic material, including both DNA and RNA, found within a single bacterium. It contains all the hereditary information necessary for the bacterium to grow, reproduce, and survive in its environment. The bacterial genome typically includes circular chromosomes, as well as plasmids, which are smaller, circular DNA molecules that can carry additional genes. These genes encode various functional elements such as enzymes, structural proteins, and regulatory sequences that determine the bacterium's characteristics and behavior.

Bacterial genomes vary widely in size, ranging from around 130 kilobases (kb) in Mycoplasma genitalium to over 14 megabases (Mb) in Sorangium cellulosum. The complete sequencing and analysis of bacterial genomes have provided valuable insights into the biology, evolution, and pathogenicity of bacteria, enabling researchers to better understand their roles in various diseases and potential applications in biotechnology.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

A viral genome is the genetic material (DNA or RNA) that is present in a virus. It contains all the genetic information that a virus needs to replicate itself and infect its host. The size and complexity of viral genomes can vary greatly, ranging from a few thousand bases to hundreds of thousands of bases. Some viruses have linear genomes, while others have circular genomes. The genome of a virus also contains the information necessary for the virus to hijack the host cell's machinery and use it to produce new copies of the virus. Understanding the genetic makeup of viruses is important for developing vaccines and antiviral treatments.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

I'm sorry for any confusion, but "Internet" is a term that pertains to the global network of interconnected computers and servers that enable the transmission and reception of data via the internet protocol (IP). It is not a medical term and does not have a specific medical definition. If you have any questions related to medicine or health, I'd be happy to try to help answer them for you!

I am not aware of a widely accepted medical definition for the term "software," as it is more commonly used in the context of computer science and technology. Software refers to programs, data, and instructions that are used by computers to perform various tasks. It does not have direct relevance to medical fields such as anatomy, physiology, or clinical practice. If you have any questions related to medicine or healthcare, I would be happy to try to help with those instead!

A factual database in the medical context is a collection of organized and structured data that contains verified and accurate information related to medicine, healthcare, or health sciences. These databases serve as reliable resources for various stakeholders, including healthcare professionals, researchers, students, and patients, to access evidence-based information for making informed decisions and enhancing knowledge.

Examples of factual medical databases include:

1. PubMed: A comprehensive database of biomedical literature maintained by the US National Library of Medicine (NLM). It contains citations and abstracts from life sciences journals, books, and conference proceedings.
2. MEDLINE: A subset of PubMed, MEDLINE focuses on high-quality, peer-reviewed articles related to biomedicine and health. It is the primary component of the NLM's database and serves as a critical resource for healthcare professionals and researchers worldwide.
3. Cochrane Library: A collection of systematic reviews and meta-analyses focused on evidence-based medicine. The library aims to provide unbiased, high-quality information to support clinical decision-making and improve patient outcomes.
4. OVID: A platform that offers access to various medical and healthcare databases, including MEDLINE, Embase, and PsycINFO. It facilitates the search and retrieval of relevant literature for researchers, clinicians, and students.
5. ClinicalTrials.gov: A registry and results database of publicly and privately supported clinical studies conducted around the world. The platform aims to increase transparency and accessibility of clinical trial data for healthcare professionals, researchers, and patients.
6. UpToDate: An evidence-based, physician-authored clinical decision support resource that provides information on diagnosis, treatment, and prevention of medical conditions. It serves as a point-of-care tool for healthcare professionals to make informed decisions and improve patient care.
7. TRIP Database: A search engine designed to facilitate evidence-based medicine by providing quick access to high-quality resources, including systematic reviews, clinical guidelines, and practice recommendations.
8. National Guideline Clearinghouse (NGC): A database of evidence-based clinical practice guidelines and related documents developed through a rigorous review process. The NGC aims to provide clinicians, healthcare providers, and policymakers with reliable guidance for patient care.
9. DrugBank: A comprehensive, freely accessible online database containing detailed information about drugs, their mechanisms, interactions, and targets. It serves as a valuable resource for researchers, healthcare professionals, and students in the field of pharmacology and drug discovery.
10. Genetic Testing Registry (GTR): A database that provides centralized information about genetic tests, test developers, laboratories offering tests, and clinical validity and utility of genetic tests. It serves as a resource for healthcare professionals, researchers, and patients to make informed decisions regarding genetic testing.

Pharmacogenetics is a branch of pharmacology that deals with the study of genetic factors that influence an individual's response to drugs. It involves the examination of how variations in genes encoding drug-metabolizing enzymes, transporters, receptors, and other targets affect drug absorption, distribution, metabolism, excretion, and efficacy, as well as the incidence and severity of adverse reactions.

The goal of pharmacogenetics is to optimize drug therapy by tailoring it to an individual's genetic makeup, thereby improving treatment outcomes, reducing adverse effects, and minimizing healthcare costs. This field has significant implications for personalized medicine, as it may help identify patients who are more likely to benefit from certain medications or who are at increased risk of toxicity, allowing for more informed prescribing decisions.

The HapMap Project is not a medical definition itself, but rather it's a term used in the field of genetics and genomics. Here's a definition related to the project:

The International HapMap Project was an initiative started in 2002 with the goal of creating a comprehensive map of human genetic variation, known as haplotype map (HapMap). The project aimed to identify and catalog genetic markers, called single nucleotide polymorphisms (SNPs), across the human genome. These markers were used to study patterns of genetic variation in different populations, with a focus on identifying haplotypes, which are groups of SNPs that tend to be inherited together.

The HapMap Project provided valuable resources for researchers studying genetic associations with various diseases and traits, as well as insights into human evolution and migration patterns. The project involved collaborative efforts from scientists worldwide, and the data generated from this initiative have been widely used in genetics research, including genome-wide association studies (GWAS) and personalized medicine approaches.

In summary, the HapMap Project is a significant genetics research endeavor that resulted in a detailed map of human genetic variation, facilitating further studies on the relationship between genetics and various diseases or traits.

A plant genome refers to the complete set of genetic material or DNA present in the cells of a plant. It contains all the hereditary information necessary for the development and functioning of the plant, including its structural and functional characteristics. The plant genome includes both coding regions that contain instructions for producing proteins and non-coding regions that have various regulatory functions.

The plant genome is composed of several types of DNA molecules, including chromosomes, which are located in the nucleus of the cell. Each chromosome contains one or more genes, which are segments of DNA that code for specific proteins or RNA molecules. Plants typically have multiple sets of chromosomes, with each set containing a complete copy of the genome.

The study of plant genomes is an active area of research in modern biology, with important applications in areas such as crop improvement, evolutionary biology, and medical research. Advances in DNA sequencing technologies have made it possible to determine the complete sequences of many plant genomes, providing valuable insights into their structure, function, and evolution.

Molecular evolution is the process of change in the DNA sequence or protein structure over time, driven by mechanisms such as mutation, genetic drift, gene flow, and natural selection. It refers to the evolutionary study of changes in DNA, RNA, and proteins, and how these changes accumulate and lead to new species and diversity of life. Molecular evolution can be used to understand the history and relationships among different organisms, as well as the functional consequences of genetic changes.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Molecular cloning is a laboratory technique used to create multiple copies of a specific DNA sequence. This process involves several steps:

1. Isolation: The first step in molecular cloning is to isolate the DNA sequence of interest from the rest of the genomic DNA. This can be done using various methods such as PCR (polymerase chain reaction), restriction enzymes, or hybridization.
2. Vector construction: Once the DNA sequence of interest has been isolated, it must be inserted into a vector, which is a small circular DNA molecule that can replicate independently in a host cell. Common vectors used in molecular cloning include plasmids and phages.
3. Transformation: The constructed vector is then introduced into a host cell, usually a bacterial or yeast cell, through a process called transformation. This can be done using various methods such as electroporation or chemical transformation.
4. Selection: After transformation, the host cells are grown in selective media that allow only those cells containing the vector to grow. This ensures that the DNA sequence of interest has been successfully cloned into the vector.
5. Amplification: Once the host cells have been selected, they can be grown in large quantities to amplify the number of copies of the cloned DNA sequence.

Molecular cloning is a powerful tool in molecular biology and has numerous applications, including the production of recombinant proteins, gene therapy, functional analysis of genes, and genetic engineering.

Phylogeny is the evolutionary history and relationship among biological entities, such as species or genes, based on their shared characteristics. In other words, it refers to the branching pattern of evolution that shows how various organisms have descended from a common ancestor over time. Phylogenetic analysis involves constructing a tree-like diagram called a phylogenetic tree, which depicts the inferred evolutionary relationships among organisms or genes based on molecular sequence data or other types of characters. This information is crucial for understanding the diversity and distribution of life on Earth, as well as for studying the emergence and spread of diseases.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

A nucleic acid database is a type of biological database that contains sequence, structure, and functional information about nucleic acids, such as DNA and RNA. These databases are used in various fields of biology, including genomics, molecular biology, and bioinformatics, to store, search, and analyze nucleic acid data.

Some common types of nucleic acid databases include:

1. Nucleotide sequence databases: These databases contain the primary nucleotide sequences of DNA and RNA molecules from various organisms. Examples include GenBank, EMBL-Bank, and DDBJ.
2. Structure databases: These databases contain three-dimensional structures of nucleic acids determined by experimental methods such as X-ray crystallography or nuclear magnetic resonance (NMR) spectroscopy. Examples include the Protein Data Bank (PDB) and the Nucleic Acid Database (NDB).
3. Functional databases: These databases contain information about the functions of nucleic acids, such as their roles in gene regulation, transcription, and translation. Examples include the Gene Ontology (GO) database and the RegulonDB.
4. Genome databases: These databases contain genomic data for various organisms, including whole-genome sequences, gene annotations, and genetic variations. Examples include the Human Genome Database (HGD) and the Ensembl Genome Browser.
5. Comparative databases: These databases allow for the comparison of nucleic acid sequences or structures across different species or conditions. Examples include the Comparative RNA Web (CRW) Site and the Sequence Alignment and Modeling (SAM) system.

Nucleic acid databases are essential resources for researchers to study the structure, function, and evolution of nucleic acids, as well as to develop new tools and methods for analyzing and interpreting nucleic acid data.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

Contig mapping, short for contiguous mapping, is a process used in genetics and genomics to construct a detailed map of a particular region or regions of a genome. It involves the use of molecular biology techniques to physically join together, or "clone," overlapping DNA fragments from a specific region of interest in a genome. These joined fragments are called "contigs" because they are continuous and contiguous stretches of DNA that represent a contiguous map of the region.

Contig mapping is often used to study large-scale genetic variations, such as deletions, duplications, or rearrangements, in specific genomic regions associated with diseases or other traits. It can also be used to identify and characterize genes within those regions, which can help researchers understand their function and potential role in disease processes.

The process of contig mapping typically involves several steps, including:

1. DNA fragmentation: The genomic region of interest is broken down into smaller fragments using physical or enzymatic methods.
2. Cloning: The fragments are inserted into a vector, such as a plasmid or bacteriophage, which can be replicated in bacteria to produce multiple copies of each fragment.
3. Library construction: The cloned fragments are pooled together to create a genomic library, which contains all the DNA fragments from the region of interest.
4. Screening and selection: The library is screened using various methods, such as hybridization or PCR, to identify clones that contain overlapping fragments from the region of interest.
5. Contig assembly: The selected clones are ordered based on their overlapping regions to create a contiguous map of the genomic region.
6. Sequencing and analysis: The DNA sequence of the contigs is determined and analyzed to identify genes, regulatory elements, and other features of the genomic region.

Overall, contig mapping is an important tool for studying the structure and function of genomes, and has contributed significantly to our understanding of genetic variation and disease mechanisms.

In genetics, sequence alignment is the process of arranging two or more DNA, RNA, or protein sequences to identify regions of similarity or homology between them. This is often done using computational methods to compare the nucleotide or amino acid sequences and identify matching patterns, which can provide insight into evolutionary relationships, functional domains, or potential genetic disorders. The alignment process typically involves adjusting gaps and mismatches in the sequences to maximize the similarity between them, resulting in an aligned sequence that can be visually represented and analyzed.

A fungal genome refers to the complete set of genetic material or DNA present in the cells of a fungus. It includes all the genes and non-coding regions that are essential for the growth, development, and survival of the organism. The fungal genome is typically haploid, meaning it contains only one set of chromosomes, unlike diploid genomes found in many animals and plants.

Fungal genomes vary widely in size and complexity, ranging from a few megabases to hundreds of megabases. They contain several types of genetic elements such as protein-coding genes, regulatory regions, repetitive elements, and mobile genetic elements like transposons. The study of fungal genomes can provide valuable insights into the evolution, biology, and pathogenicity of fungi, and has important implications for medical research, agriculture, and industrial applications.

Expressed Sequence Tags (ESTs) are short, single-pass DNA sequences that are derived from cDNA libraries. They represent a quick and cost-effective method for large-scale sequencing of gene transcripts and provide an unbiased view of the genes being actively expressed in a particular tissue or developmental stage. ESTs can be used to identify and study new genes, to analyze patterns of gene expression, and to develop molecular markers for genetic mapping and genome analysis.

Physical chromosome mapping, also known as physical mapping or genomic mapping, is the process of determining the location and order of specific genes or DNA sequences along a chromosome based on their physical distance from one another. This is typically done by using various laboratory techniques such as restriction enzyme digestion, fluorescence in situ hybridization (FISH), and chromosome walking to identify the precise location of a particular gene or sequence on a chromosome.

Physical chromosome mapping provides important information about the organization and structure of chromosomes, and it is essential for understanding genetic diseases and disorders. By identifying the specific genes and DNA sequences that are associated with certain conditions, researchers can develop targeted therapies and treatments to improve patient outcomes. Additionally, physical chromosome mapping is an important tool for studying evolution and comparative genomics, as it allows scientists to compare the genetic makeup of different species and identify similarities and differences between them.

A protozoan genome refers to the complete set of genetic material or DNA present in a protozoan organism. Protozoa are single-celled eukaryotic microorganisms that lack cell walls and have diverse morphology and nutrition modes. The genome of a protozoan includes all the genes that code for proteins, as well as non-coding DNA sequences that regulate gene expression and other cellular processes.

The size and complexity of protozoan genomes can vary widely depending on the species. Some protozoa have small genomes with only a few thousand genes, while others have larger genomes with tens of thousands of genes or more. The genome sequencing of various protozoan species has provided valuable insights into their evolutionary history, biology, and potential as model organisms for studying eukaryotic cellular processes.

It is worth noting that the study of protozoan genomics is still an active area of research, and new discoveries are continually being made about the genetic diversity and complexity of these fascinating microorganisms.

Alu elements are short, repetitive sequences of DNA that are found in the genomes of primates, including humans. These elements are named after the restriction enzyme Alu, which was used to first identify them. Alu elements are derived from a 7SL RNA molecule and are typically around 300 base pairs in length. They are characterized by their ability to move or "jump" within the genome through a process called transposition.

Alu elements make up about 11% of the human genome and are thought to have played a role in shaping its evolution. They can affect gene expression, regulation, and function, and have been associated with various genetic disorders and diseases. Additionally, Alu elements can also serve as useful markers for studying genetic diversity and evolutionary relationships among primates.

A mitochondrial genome refers to the genetic material present in the mitochondria, which are small organelles found in the cytoplasm of eukaryotic cells (cells with a true nucleus). The mitochondrial genome is typically circular and contains a relatively small number of genes compared to the nuclear genome.

Mitochondrial DNA (mtDNA) encodes essential components of the electron transport chain, which is vital for cellular respiration and energy production. MtDNA also contains genes that code for some mitochondrial tRNAs and rRNAs needed for protein synthesis within the mitochondria.

In humans, the mitochondrial genome is about 16.6 kilobases in length and consists of 37 genes: 2 ribosomal RNA (rRNA) genes, 22 transfer RNA (tRNA) genes, and 13 protein-coding genes. The mitochondrial genome is inherited maternally, as sperm contribute very few or no mitochondria during fertilization. Mutations in the mitochondrial genome can lead to various genetic disorders, often affecting tissues with high energy demands, such as muscle and nerve cells.

Pseudogenes are defined in medical and genetics terminology as non-functional segments of DNA that resemble functional genes, such as protein-coding genes or RNA genes, but have lost their ability to be expressed or produce a functional product. They are often characterized by the presence of mutations, such as frameshifts, premature stop codons, or deletions, that prevent them from being transcribed or translated into functional proteins or RNAs.

Pseudogenes can arise through various mechanisms, including gene duplication followed by degenerative mutations, retrotransposition of processed mRNA, and the insertion of transposable elements. While they were once considered "genomic fossils" with no biological relevance, recent research has shown that pseudogenes may play important roles in regulating gene expression, modulating protein function, and contributing to disease processes.

It's worth noting that there is ongoing debate in the scientific community about the precise definition and functional significance of pseudogenes, as some may still retain residual functions or regulatory potential.

An algorithm is not a medical term, but rather a concept from computer science and mathematics. In the context of medicine, algorithms are often used to describe step-by-step procedures for diagnosing or managing medical conditions. These procedures typically involve a series of rules or decision points that help healthcare professionals make informed decisions about patient care.

For example, an algorithm for diagnosing a particular type of heart disease might involve taking a patient's medical history, performing a physical exam, ordering certain diagnostic tests, and interpreting the results in a specific way. By following this algorithm, healthcare professionals can ensure that they are using a consistent and evidence-based approach to making a diagnosis.

Algorithms can also be used to guide treatment decisions. For instance, an algorithm for managing diabetes might involve setting target blood sugar levels, recommending certain medications or lifestyle changes based on the patient's individual needs, and monitoring the patient's response to treatment over time.

Overall, algorithms are valuable tools in medicine because they help standardize clinical decision-making and ensure that patients receive high-quality care based on the latest scientific evidence.

Artificial bacterial chromosomes (ABCs) are synthetic replicons that are designed to function like natural bacterial chromosomes. They are created through the use of molecular biology techniques, such as recombination and cloning, to construct large DNA molecules that can stably replicate and segregate within a host bacterium.

ABCs are typically much larger than traditional plasmids, which are smaller circular DNA molecules that can also replicate in bacteria but have a limited capacity for carrying genetic information. ABCs can accommodate large DNA inserts, making them useful tools for cloning and studying large genes, gene clusters, or even entire genomes of other organisms.

There are several types of ABCs, including bacterial artificial chromosomes (BACs), P1-derived artificial chromosomes (PACs), and yeast artificial chromosomes (YACs). BACs are the most commonly used type of ABC and can accommodate inserts up to 300 kilobases (kb) in size. They have been widely used in genome sequencing projects, functional genomics studies, and protein production.

Overall, artificial bacterial chromosomes provide a powerful tool for manipulating and studying large DNA molecules in a controlled and stable manner within bacterial hosts.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

Genomic structural variation refers to the changes in the structure of an organism's genome that involve alterations of 50 or more base pairs. These variations can include deletions, duplications, insertions, inversions, and translocations of large segments of DNA. Structural variants can have significant effects on gene function and regulation, and are associated with a wide range of genetic disorders and phenotypic differences between individuals. They can be identified through various genomic technologies such as array comparative genomic hybridization (aCGH), whole-genome sequencing, and optical mapping.

High-throughput nucleotide sequencing, also known as next-generation sequencing (NGS), refers to a group of technologies that allow for the rapid and parallel determination of nucleotide sequences of DNA or RNA molecules. These techniques enable the sequencing of large numbers of DNA or RNA fragments simultaneously, resulting in the generation of vast amounts of sequence data in a single run.

High-throughput sequencing has revolutionized genomics research by allowing for the rapid and cost-effective sequencing of entire genomes, transcriptomes, and epigenomes. It has numerous applications in basic research, including genome assembly, gene expression analysis, variant detection, and methylation profiling, as well as in clinical settings, such as diagnosis of genetic diseases, identification of pathogens, and monitoring of cancer progression and treatment response.

Some common high-throughput sequencing platforms include Illumina (sequencing by synthesis), Ion Torrent (semiconductor sequencing), Pacific Biosciences (single molecule real-time sequencing), and Oxford Nanopore Technologies (nanopore sequencing). Each platform has its strengths and limitations, and the choice of technology depends on the specific research question and experimental design.

A multigene family is a group of genetically related genes that share a common ancestry and have similar sequences or structures. These genes are arranged in clusters on a chromosome and often encode proteins with similar functions. They can arise through various mechanisms, including gene duplication, recombination, and transposition. Multigene families play crucial roles in many biological processes, such as development, immunity, and metabolism. Examples of multigene families include the globin genes involved in oxygen transport, the immune system's major histocompatibility complex (MHC) genes, and the cytochrome P450 genes associated with drug metabolism.

Molecular sequence annotation is the process of identifying and describing the characteristics, functional elements, and relevant information of a DNA, RNA, or protein sequence at the molecular level. This process involves marking the location and function of various features such as genes, regulatory regions, coding and non-coding sequences, intron-exon boundaries, promoters, introns, untranslated regions (UTRs), binding sites for proteins or other molecules, and post-translational modifications in a given molecular sequence.

The annotation can be manual, where experts curate and analyze the data to predict features based on biological knowledge and experimental evidence. Alternatively, computational methods using various bioinformatics tools and algorithms can be employed for automated annotation. These tools often rely on comparative analysis, pattern recognition, and machine learning techniques to identify conserved sequence patterns, motifs, or domains that are associated with specific functions.

The annotated molecular sequences serve as valuable resources in genomic and proteomic studies, contributing to the understanding of gene function, evolutionary relationships, disease associations, and biotechnological applications.

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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 ... Projects similar to HGDP are the 1000 Genomes Project and the HapMap Project. Each has its own specificities and each has been ... The study of human populations has been at the forefront of genomic and clinical research since the Human Genome Project (HGP) ...
Human Microbiome Project is sequencing the genomes of microbes involved in human health and disease. 1000 Genomes Project seeks ... formerly the Genome Sequencing Center and The Genome Institute, began as a key player in the Human Genome Project, ultimately ... Following completion of the working draft of the human genome in 2000, and the finished human genome sequence in 2003, ... Dryden, Jim (April 23, 2003). "Human Genome Project completed". Washington University in St. Louis. Retrieved July 29, 2012. ...
A genome map is less detailed than a genome sequence and aids in navigating around the genome. The Human Genome Project was ... "The Human Genome Project". Genome.gov. Retrieved 29 April 2023. "First complete sequence of a human genome". National ... The Human Genome Project was started in October 1990, and then reported the sequence of the human genome in April 2003, ... DNA Science DNA From The Beginning All About The Human Genome Project-from Genome.gov Animal genome size database Plant genome ...
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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. ... International HapMap Project Tomato 150+ genome resequencing project 100,000 Genomes Project 100K Pathogen Genome Project ...
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The ICGC is one of the most ambitious biomedical research efforts since the Human Genome Project. The consortium will help to ... The Cancer Genome Atlas - National Cancer Institute Cancer Genome Project - Wellcome Trust Sanger Institute Hudson TJ, et al. ( ... "The International Cancer Genome Consortium announces the launch of 8 Cancer Genome Projects" (PDF). Archived from the original ... The ICGC incorporates data from The Cancer Genome Atlas (TCGA) and the Sanger Cancer Genome Project. Professor Andrew Biankin ...
Committee Human Cytome Project Human Microbiome Project Human Proteome Project Human Protein Atlas Human Variome Project List ... Genome projects, Human genome projects, Human Genome Project scientists, Life sciences industry). ... including the human genome in a sub-project known as Human Genome Project-Write (HGP-Write). Formally announced on 2 June 2016 ... The Genome Project - Write (also known as GP-Write) is a large-scale collaborative research project (an extension of Genome ...
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The MGI partially references the Human Genome Project, but only conceptually, and is a broader and less targeted effort. The ... Materials genome is an analogy to genomes in biology, but in a conceptual sense: the many important phases, defects, and ... "Materials Genome Initiative". Retrieved 2023-03-11. "Home". materialsgenome.com. "About the Materials Genome Initiative". ... discussing about the possibilities and limitations of a Nanomaterials Genome, expanding concept of the Materials Genome by ...
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"DNA forensics." Human Genome Project Information. 21 Feb 2008. 2 March 2008. Klug, William, and Michael Cummings. Essential of ... The DNA is identified by looking for genome specific repetitive elements and by comparing it with known examples. Humans are ... A project termed "the barcode of life" was launched by Dr. Paul D. N. Hebert, where he identified a gene that is used in ... Recent studies have revealed that human DNA can be recovered from bed bugs for up to 60 days after feeding, thus demonstrating ...
"Human Genome Project". Wellcome Sanger Institute. "Hinxton Watermill". CambridgePPF. Archived from the original on 20 April ... Hall was used by the Wellcome Sanger Institute and housed the early years of the UK's contribution to the Human Genome Project ... Hinxton is the home of the Wellcome Genome Campus, which includes the Wellcome Sanger Institute and the European Bioinformatics ...
"Genetics and Patenting". Human Genome Project Information. U.S. Department of Energy Genome Programs. 7 July 2010. Liptak, Adam ... Because humans have a diploid genome, each cell has two copies of the gene (one from each biological parent). Typically only ... Human Reproduction Update. 20 (5): 688-701. doi:10.1093/humupd/dmu020. ISSN 1355-4786. PMID 24821925. Oktay, K; Kim, JY; Barad ... 13 June 2013). "Supreme Court Rules Human Genes May Not Be Patented". The New York Times. Retrieved 13 June 2013. BOADICEA ...
"Human Genome Project FAQ". Genome.gov. Retrieved 2022-03-11. Deckert J, Weber H, Villmann C, Lonsdorf TB, Richter J, Andreatta ... With the completion of the Human Genome Project in 2003, much research has been completed looking at specific genes that may ... Through observational learning, humans can learn to fear potentially dangerous objects-a reaction observed in other primates. A ... Candidate genes were the focus of most of these studies until the past decade, when the cost and ability to perform genome-wide ...
Human Genome Project (2003). "Human Genome Project Information: Minorities, Race, and Genomics". U.S. Department of Energy (DOE ... The Human Genome Project states "People who have lived in the same geographic region for many generations may have some alleles ... In 2015, Keith Hunley, Graciela Cabana, and Jeffrey Long analyzed the Human Genome Diversity Project sample of 1,037 ... 195 Molnar 1992 Human Genome Project 2003 Pigliucci, Massimo; Kaplan, Jonathan (December 2003). "On the Concept of Biological ...
"Human Genome Diversity Project". www.indians.org. Retrieved 2019-07-20. Wee, Sui-Lee (2019-02-21). "China Uses DNA to Track Its ... of individuals by single nucleotide polymorphisms and was a key figure in the 1990s Human Genome Diversity Project (HGDP), ... Weiss, Ken (2019-03-25). "The Mermaid's Tale: Human Genome Diversity: important to recognize, but not a new issue". The ... He is known for his work on the role of genetics in disorders such as manic depression and schizophrenia, on human genetic ...
Human Genome Sequencing Center. Baylor College of Medicine. Retrieved 3 September 2013. "i5k Project Summary". Human Genome ... the wasp's genome is being sequenced by the Human Genome Sequencing Center as part of the i5K project, which aims to sequence ... the genomes of 5,000 arthropods. As a putatively eusocial species, C. floridanum embodies only two of the four behavioral ...
"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. ... Works by archive Works by Human Genome Project at Project Gutenberg Project Gutenberg hosts e-texts for Human Genome Project, ...
Their goal is to figure out the order of all DNA letters (bases) in our genome. ... Many scientists have joined forces on the Human Genome Project. ... Scientists with the Human Genome Project (HGP) study only the ... genome All the DNA in a cell is called a genome. Your body contains trillions of copies of the human genome -- one in each o ... So, to get a complete picture of our species DNA, you might think that the Human Genome Project scientists have to study the ...
... November 17, 2011. For years, many considered the Human Genome Project to be ... the Human Genome Projects impact has resulted in the return of $141 to the U.S. economy. Further, between 1988 and 2010, human ... The project was an overwhelming success, delivering the first rough draft human genome sequence in 2000 and the final high- ... on the economic impact of the Human Genome Project. Among its findings was that for every $1 invested by the federal government ...
Karen E. Kirk and Jonathan Weiland "Trekking Through The Human Genome: An Individualized Laboratory Project," The American ... Karen E. Kirk, Jonathan Weiland "Trekking Through The Human Genome: An Individualized Laboratory Project," The American Biology ...
... the human genome is probably dwarfed by those genomes in terms of numbers of nucleic acids and species. Human cells are ... Ten years after its "official" completion, what can be said about the Human Genome Project (HGP)? While the question is still ... GEN asked four questions of the panel: Why should completing the human genome project be considered such a historical ... Microbial company. It turns out that the human genome is surrounded by thousands of microbial genomes. In fact, in any given ...
... purpose and consequences of the Human Genome Project. ... of the human genes mapped by the Human Genome Project, were ... DNA and human disease," Cell, 104 (Feb. 23, 2001), 465-467. 6. www.probe.org/did-the-human-genome-project-prove-that-darwin-was ... "Evolutionary analyses of the human genome," Nature, 409 (15 Feb 2001):847-849. 8. Tom Abate, "Human Genome Map Has Scientists ... What Does the Human Genome Project Hope to Accomplish?. The National Institutes of Health in cooperation with several ...
Genomics Study Of Genes DNA Sequencing Whole Genomes Organization Function Regulation Evolution Genetics Molecular Biology ... Computational Sciences Frederick Sanger Shotgun Sequencing Approach Human Genome Project Sequencing Technologies Bioinformatics ...
... launched the human genome project on Saturday which perfects gene scanning to help decrease chronic and genetic diseases, ... The Dubai Health Authority (DHA) launched the human genome project on Saturday which perfects gene scanning to help decrease ... 26 innovative projects presented by 24 government bodies were accepted under the 10X Initiative out of a total of 160 projects ... The project comes as part of the Dubai 10X initiative, launched at the World Government Summit by Dubais Crown Prince Hamdan ...
James Watson talks about The Human Genome Project (Part 3) ... The Human Genome Project (Part 3) 66 05:23 82. The Human Genome ... In fact, he was - Sydney had a small human genome project where he did his cDNAs, but it was all being done like it was basic ... Results of the Human Genome Project; sequencing and mapping 94 07:48 ... From 1988 to 1992, James Watson was head of the Human Genome Project at the National Institutes of Health. His current research ...
The Human Genome Project: Genes on Human Chromosome 17 ... The Human Genome Project: Genes on Human Chromosome 17 The ... The information in this video represents only a small fraction of whats currently known about the human genome. Most of the ... 388 genes have been identified on human chromosome 17. The general locations of a few of these genes are shown using their ... Here is a drawing of human chromosome 17 showing its characteristic major banding pattern as it appears after staining. By ...
The completion of the human genome project (HGP) is an example of newsworthy science that ... Genome sequencing technology has led to many recent scientific breakthroughs. These breakthroughs have captured the interest of ... THE HUMAN GENOME PROJECT: THE IMPACT OF GENOME SEQUENCING TECHNOLOGY ON HUMAN HEALTH by joannefox ... What is the Human Genome Project?. Genome sequencing technology has led to many recent scientific breakthroughs. These ...
Human Genome Project: 1998-2003. The Human Genome Project (HGP) is fulfilling its promise as the single most important project ... Human Genome -The Biggest Sellout in Human History. The Human Genome Project: Hype meets reality. NOVA: Nature vs. Nurture ... The human genome project, 10 years in: Did they oversell the revolution? in the Globa and Mail by Paul Taylor referring to: " ... The coverage outraged Eric Lander, who was one of the leaders of the Human Genome Project and now directs the Broad Institute, ...
Wikipedia on the "Human Genome Project": https://en.wikipedia.org/wiki/Human_Genome_Project The "genome" of any given ... Human Genome Project , even the billion-dollar and decades-old efforts to decode "THE" Human Genome has still decoded only ... Human Genome Project, "Personalized Medicine", 23&Me -- and Genetic Junk References: CRISPR Gene "Editing", "The" Human Genome ... web.ornl.gov/sci/techresources/Human_Genome/project/index.shtml . See especially "How many genes are in the human genome?" and ...
The Origin and Implications of the Human Genome Project ...
Scientists have assembled the DNA sequences from a strain of the common lab mouse and made the draft genome available for free ... How the Human Genome Project revolutionized understanding of our DNA By Tina Hesman Saey. February 9, 2022. ... The mouse genome is about 15 percent smaller than the human genome, according to the geneticists. Theyve identified about ... Celera, the Rockville, Md., company that sequenced the human genome, also completed a mouse genome, but researchers need to pay ...
Multiple teams announce complete draft of the maize genome, with a full plate of surprises that include hints about hybrid ... How the Human Genome Project revolutionized understanding of our DNA By Tina Hesman Saey. February 9, 2022. ... Corn genome a maze of unusual diversity. Multiple teams announce complete draft of the maize genome, with a full plate of ... The new human pangenome could help unveil the biology of everyone By Tina Hesman Saey. May 10, 2023. ...
VIEIRA, Daniela Peressoni et al. Knowledge of Human Genome Project among Dentistry undergraduates. RSBO (Online) []. 2014, 11, ... Introduction: The Human Genome Project (HGP) has allowed for advances in diagnosis and prevention of diseases. Objective: The ...
... dc.creator. FitzGerald, K. T.. en. ... Beyond the Human Genome Project: Genetics and Ethics, Human Nature and Society. en. ... for the National Information Resource on Ethics and Human Genetics, a project funded by the United States National Human Genome ... Genomics and its impact on science and society: the Human Genome Project and beyond  United States. Department of Energy [DOE ...
GENCODE: the reference human genome annotation for The ENCODE Project. Genome research 22, 1760-1774, doi: 10.1101/gr. ... projects such as the ICGC (International Cancer Genome Consortium) and TCGA (The Cancer Genome Atlas) aim to create definitive ... The number of lncRNA genes in the human genome is still uncertain, but probably lies in the range 20,000-50,0007,8. This vast ... The Cancer Genome Atlas Pan-Cancer analysis project. Nature genetics 45, 1113-1120, doi: 10.1038/ng.2764 (2013). ...
Philippine Genome Center © 2023 A. Maria Regidor Street, University of the Philippines. Diliman, Quezon City 1101, Philippines ...
... in the human genome.. The Human Genome Projects goal was to understand the genetic factors in human disease, paving the way ... Although mapping the human genome was a massive and vital project, understanding gene expression is the real key. Next week I ... In April of 2003, researchers successfully completed the Human Genome Project, under budget and more than two years ahead of ... Frankly, the scientists involved in this vast undertaking were initially disappointed that mapping the human genome did not ...
39; re helping 10 book Justice and the Human Genome Project 1994 off and 2x Kobo Super Points on 1st links. There are then no ... In 1814 he was a book Justice and the Human Genome Project 1994 in a study that he assumed transmitted a tremendous and ... The book Justice and the Human Genome Project 1994 has not read. You are enormously be whosestate to be this education. Turning ... A continuous book Justice and the Human Genome Project 1994 is new when torrent Physical reading a naturally own Reference. In ...
The aim of the Human Genome Project (HGP) was to obtain the complete sequence of all the 3 billion (3×109) base pairs (bp) of ... By 1986, the technologies of DNA cloning and sequencing had developed sufficiently to make sequencing a complete human genome a ... In 1998, a private venture launched an alternative shotgun approach to sequence the human genome that involved omitting the ... As the cost of DNA sequencing continues to plummet, there will be many individual whole-genome sequences produced. These DNA ...
The Human Genome Project began in 1990 with the task of mapping the genes that would compose the human genetic code. Recently, ... Human genome project and the dangers of biological reducionist determinism in the behavioral explanation: a radical behaviorist ... Palabras clave : Genome project; Biological determinism; Selection by consequences; Radical behaviorism; Aggressive behavior. ... the general coordinator of the Cancer Genome Project in Brazil, suggested the existence of a set of genes responsible for ...
... Press Briefing By Dr. Neal Lane, Assistant To The President Of The ... I would also like to pay tribute to President Clintons support for the Human Genome Project, and for the huge role the United ... A CNN-Time poll this morning reported that 46 percent of Americans polled believe that the impact of the Human Genome Project ... Now, thus far, every milestone set by the International Human Genome Project has been met -- on schedule or in some cases, ...
1993 and also general Human Genome Project correspondence and minutes of HGD Executive meetings with associated papers. ... HUGO: Human Genome Organisation, 1987-2006 * Human Genome Diversity Project, 1994-1995 ...
300M letters of DNA are missing from the Human Genome Project (Links to an external site). December 4, 2018. ... Author: McDonnell Genome Institute (MGI). School of Medicine expands mission of McDonnell Genome Institute (Links to an ...
... the Chinese gene giant BGI Group says it will make genome sequencing cheaper than ever, breaking the $100 barrier for the first ... BGI was founded two decades ago during Chinas participation in the Human Genome Project. Since then, it has morphed from a ... Since the first human genome was decoded in 2003, costs have dropped precipitously. A decade ago, decoding one persons genome ... A massive suite of papers offers a high-res view of the human and non-human primate brain. ...
  • At the same time Renato Dulbecco, President of the Salk Institute for Biological Studies, first proposed the concept of whole genome sequencing in an essay in Science. (wikipedia.org)
  • Through whole-genome sequencing, the group identified three genomic variants in the twins, and further narrowed down the cause to a mutation in a single gene - sepiapterin reductase - that disrupted a cellular pathway that produces three neurotransmitters (dopamine, serotonin and noradrenalin). (genome.gov)
  • Whole genome sequencing makes it possible to comprehensively discover the mutations, and the mutated genes, that are responsible for tumour formation. (nature.com)
  • The absence of whole-genome maps of somatic mutations has meant that searches for new cancer-related lncRNAs have relied on conventional transcriptomic approaches that reveal changes in their expression levels that accompany cancer. (nature.com)
  • It requires not only finding the nucleotide sequence of small pieces of the genome, but also ordering those small pieces together into the whole genome. (learner.org)
  • Two general strategies have been used in the sequencing of large genomes: clone-based sequencing and whole genome sequencing (Fig. 1). (learner.org)
  • A variety of mutations can cause this disorder, and Lupski wondered if a whole-genome scan could identify the particular mutation that caused his family's problems. (discovermagazine.com)
  • In 2011, whole-genome sequencing revealed not only the genetic variants responsible, it also revealed which neurotransmitters were affected, and suggested a new drug regimen that worked remarkably well to control the twins' symptoms. (discovermagazine.com)
  • While whole exome sequencing (WES) remains popular and effective as a method of genetically profiling different cancers, advances in sequencing technology has enabled an increasing number of whole-genome based studies. (frontiersin.org)
  • Compared to whole genome sequencing (WGS), exome sequencing covers only the 1% of the genome that is translated into protein, greatly reducing the technical burden of data collection and analysis. (frontiersin.org)
  • performed the first whole-genome sequencing study on AML cells collected from a single patient. (frontiersin.org)
  • A parallel project was conducted outside the government by the Celera Corporation, or Celera Genomics, which was formally launched in 1998. (wikipedia.org)
  • Further, between 1988 and 2010, human genomics generated an economic output of $796 billion, personal income exceeding $244 billion, and 3.8 million job-years of employment (note that a job-year is equivalent to one person working full time for one year). (genome.gov)
  • The medical and scientific visionaries who planned the Human Genome Project more than two decades ago could clearly see how genomics would ultimately advance medicine. (genome.gov)
  • By establishing the order of A's, C's, G's, and T's in the human genome, the HGP essentially set the stage for functional genomics research and clinical translation. (genengnews.com)
  • Today, the human genome, genomics (a rarely used word 15 years ago), and sequencing inform virtually all of biology. (genengnews.com)
  • The race to publish human genome sequence information was fuelled by competition between research from the publicly funded HGP and the privately owned company, Celera Genomics. (ubc.ca)
  • These systems would be prioritized for really large-scale population genetics, million-person projects," says Rade Drmanac, chief scientific officer of Complete Genomics, a division of BGI Group in San Jose, California, that developed the new technology. (technologyreview.com)
  • Craig Venter, leader of the private effort at Celera Genomics, speaks about the excitement the race to sequence the human genome generated. (cshl.edu)
  • Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants. (genomeweb.com)
  • As the integration of NGS in the study and treatment of cancer continues to mature, we believe that the field of cancer genomics will need to move toward more complete 100% genome sequencing. (frontiersin.org)
  • After the entire human genome was sequenced, scientists still don't know which genes control which traits. (amnh.org)
  • The first and primary goal of the HGP was to map and sequence the entire human genome. (probe.org)
  • We are here to celebrate the completion of the first survey of the entire human genome. (archives.gov)
  • In 2001 two rival teams jointly announced the completion of a draft sequence of the entire human genome, consisting of more than three billion nucleotides. (learner.org)
  • The targets were strategically selected to provide a representative cross section of the entire human genome. (nih.gov)
  • Planning for the project started after it was adopted in 1984 by the US government, and it officially launched in 1990. (wikipedia.org)
  • The Human Genome Project was a 15 year-long publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 13 years. (wikipedia.org)
  • In 1990, the two major funding agencies, DOE and the National Institutes of Health, developed a memorandum of understanding in order to coordinate plans and set the clock for the initiation of the Project to 1990. (wikipedia.org)
  • Officially, funding for the project began in the 1990 with the goal of sequencing the human genome by 2005. (ubc.ca)
  • In 1990, the National Institutes of Health (NIH) and the Department of Energy jointed with international partners in a quest to sequence all 3 billion letters, or base pairs, in the human genome. (drlongstreth.com)
  • The Human Genome Project began in 1990 with the task of mapping the genes that would compose the human genetic code. (bvsalud.org)
  • Dr. Lander was one of the principal leaders of the international Human Genome Project from 1990 to 2003. (genome.gov)
  • Spearheaded by the NIH (National Institutes of Health) , the project initiated in 1990, led by an international consortium of over 2000 scientists. (gimtravel.com)
  • the extensive lack of objective scientific knowledge and understanding that even intellectually honest human geneticists -- not to mention genetic "engineers" (most of whom have little or no formal graduate level course work or academic degrees in human genetics or in biology in general) -- have about the extensive intricacies of biological living systems such as those studied in genetics. (lifeissues.net)
  • A series of research papers published in the Nov. 20 Science and in the online journal PLoS Genetics report the genome draft and analyses of the plant's genetic makeup. (sciencenews.org)
  • He has been instrumental in developing tools to elucidate the molecular basis of human disease as well as several methodologies to determine the contribution of genetics to human health. (genome.gov)
  • Another genetics pioneer, Craig Venter , was also sequencing his personal genome at the same time, but the Baylor team says Watson's was completed first. (discovermagazine.com)
  • As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)
  • Summary information is provided here on the outcome of the meetings held during the last three months of 1997, in which the ethical, scientific and social implications of cloning were discussed in relation to the potential biomedical applications of this technique in such areas of human health as reproductive health, xenotransplantation and medical genetics. (who.int)
  • The potential for understanding human genetics increased greatly when the scientists behind the Human Genome Project successfully identified and mapped all the genes on human chromosomes in 2003. (msdmanuals.com)
  • Advances in techniques that assess people's genetic characteristics and increased understanding of human genetics have improved diagnosis of genetic disorders before birth. (msdmanuals.com)
  • By comparing sequences from these different model organisms, scientists gain a better understanding of the important pieces of code in genomic DNA sequence since conservation of sequences between two organisms that diverged phylogenetically millions of years ago, like humans and worms, implies that the conserved sequence is important for function. (ubc.ca)
  • Those scientists have now assembled the sequences, which cover more than 95 percent of the rodent's DNA, and made the draft genome available for free over the Internet. (sciencenews.org)
  • Dulbecco also argued that such a project should be "an international undertaking, because the sequence of the human DNA is the reality of the species, and everything that happens in the world depends upon those sequences. (learner.org)
  • Arbitrary "landmarks" of genomes include sections of unique text, called Sequence Tagged Sites (STS), found along the approximately 6 billion letters of human DNA sequences. (pswscience.org)
  • For modeling and analysis - such as in cancer research, for example, which is what we do here - by far the most important parts of the human genome assembly are the parts that code for protein ( transcribed regions and their ORFs ), along with their adjacent regulatory sequences . (bcgsc.ca)
  • The undertaking aimed to identify over 20,000 genes in human DNA , determine the sequences of the 3 billion chemical base pairs encompassing human DNA, and make this genetic information available to researchers world over. (gimtravel.com)
  • They identified landmark sequences within the genome to act as guides, followed by 'sequencing,' which involved reading the complete DNA base sequence. (gimtravel.com)
  • But while these studies have discovered thousands of sequences associated with human illness, pinpointing which sequence variations are the true culprits has proven difficult. (sciencedaily.com)
  • IMGT consists of sequence databases (IMGT/LIGM-DB, a comprehensive database of IG and TR from human and other vertebrates, with translation for fully annotated sequences, IMGT/MHC-DB, IMGT/PRIMER-DB). (bvsalud.org)
  • This could have significant implications for efforts to identify the DNA sequences involved in many human diseases. (nih.gov)
  • In particular, we gained significant insight into DNA sequences that do not encode proteins, which we knew very little about before," said Ewan Birney, Ph.D., head of genome annotation at the European Molecular Biology Laboratory's European Bioinformatics Institute (EBI) in Hinxton, England, who led ENCODE's massive data integration and analysis effort. (nih.gov)
  • Second, we highlight the importance and potential of complete or 100% genome sequencing, i.e., the ability to sequence highly repetitive non-coding sequences beyond the reach of current NGS technologies. (frontiersin.org)
  • The systematic study of the complete DNA sequences (GENOME) of organisms. (bvsalud.org)
  • The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. (wikipedia.org)
  • Most of the government-sponsored sequencing was performed in twenty universities and research centres in the United States, the United Kingdom, Japan, France, Germany, and China, working in the International Human Genome Sequencing Consortium (IHGSC). (wikipedia.org)
  • mapping the "human genome" involved sequencing samples collected from a small number of individuals and then assembling the sequenced fragments to get a complete sequence for each of 24 human chromosomes (22 autosomes and 2 sex chromosomes). (wikipedia.org)
  • In May 1985, Robert Sinsheimer organized a workshop at the University of California, Santa Cruz, to discuss the feasibility of building a systematic reference genome using gene sequencing technologies. (wikipedia.org)
  • The published work, titled "A Turning Point in Cancer Research: Sequencing the Human Genome", was shortened from the original proposal of using the sequence to understand the genetic basis of breast cancer. (wikipedia.org)
  • For example, the Human Genome Sequencing Center at the Baylor College of Medicine discovered a rare mutation in California twins that explained their mysterious, but increasingly life-threatening neuromuscular symptoms. (genome.gov)
  • Not only did the HGP achieve its stated goal-sequencing the human genome-it has also had consequences that continue to ripple outward, changing the way we think about biology, changing the way we pursue medicine, and unleashing a host of technological and commercial initiatives. (genengnews.com)
  • It reached this goal ahead of schedule, having completed sequencing for 700 patients (accumulating 1,400 whole genomes) to date. (genengnews.com)
  • Genome sequencing technology has led to many recent scientific breakthroughs. (ubc.ca)
  • From the beginning, the project has also played a large part in driving the development of technology that aided the high-throughput sequencing of genomes from other model organisms such as mouse, worm and yeast. (ubc.ca)
  • These major accomplishments in genome sequencing provide a wealth of information that aid in the understanding of basic biological processes. (ubc.ca)
  • By sequencing pairs of normal and tumour genomes from large patient cohorts, projects such as the ICGC (International Cancer Genome Consortium) and TCGA (The Cancer Genome Atlas) aim to create definitive driver mutation catalogues for all common cancers 1 , 2 . (nature.com)
  • Using technology originally acquired in the US, the Chinese gene giant BGI Group says it will make genome sequencing cheaper than ever, breaking the $100 barrier for the first time. (technologyreview.com)
  • The Shenzhen company says the low cost will be possible with an "extreme" DNA sequencing system it plans to offer that is capable of decoding the genomes of 100,000 people a year. (technologyreview.com)
  • For the last five years, the cost of genome sequencing has been kept at $1,000. (technologyreview.com)
  • Like the conquest of space, sequencing the human genome required the development of wholly new technologies. (learner.org)
  • One major surprise emerged from the sequencing of the human genome. (learner.org)
  • Sequencing a genome is an enormous task. (learner.org)
  • One special type of plasmid used for genome sequencing is a bacterial artificial chromosome (BAC) , which can contain DNA fragments of about 150 kb. (learner.org)
  • Ari Patrinos, director of the U.S. Department of Energy's sequencing effort and friend to the leaders of both projects, speaks about the media surrounding the Human Genome Project. (cshl.edu)
  • Courtesy of Solexa Total Genotyping Without a doubt, the quarter-century-old Sanger sequencing method performed like a champ during the Human Genome Project. (the-scientist.com)
  • Some companies estimate that within the next five years, technical advances could drop the cost of sequencing the human genome low enough to make the "thousand-dollar genome" a reality. (the-scientist.com)
  • Whether or not that happens, new sequencing approaches could in the short term facilitate large-scale decoding of smaller genomes. (the-scientist.com)
  • In the long term, low-cost, rapid human genome sequencing could become a routine, in-office diagnostic test--the first step on the road to truly personalized medicine. (the-scientist.com)
  • Celera kept its own human genome data secret while benefiting from free access to the public database throughout the period that the company was busy sequencing, thereby significantly reducing the time and effort needed to complete the task. (biosafety-info.net)
  • The article focused on the sequencing technology that will soon enable a full scan of a human genome for $1000, and to make the story come alive, I decided to go through the process myself. (discovermagazine.com)
  • The Baylor team has been intimately involved in many of the most important advances of genome sequencing over the last decade. (discovermagazine.com)
  • Once the Human Genome Project was completed, researchers were eager to start sequencing individual human beings, and to examine the genetic variations that define each individual's traits and quirks. (discovermagazine.com)
  • If the cost of sequencing a genome had continued at $3 billion a pop, there would be no way to conduct such experiments. (discovermagazine.com)
  • The completion of the Human Genome Project in April 2003 was a major achievement, but the sequencing of the genome marked just the first step toward the goal of using such information to diagnose, treat and prevent disease. (nih.gov)
  • The NCBI Entrez Genome Project database is intended to be a searchable collection of complete and incomplete (in-progress) large-scale sequencing, assembly, annotation, and mapping projects for cellular organisms. (lu.se)
  • Although the Entrez Genome Project database does not include viral genome sequencing projects, data from those projects are submitted to GenBank and are available in the Entrez Nucleotide and Entrez Genome databases. (lu.se)
  • The leaders of the private and public genome projects, Craig Venter and Francis Collins. (cshl.edu)
  • Headed by Eric S. Lander, Craig Venter and Francis Collins, the project was completed in 2003 and revealed in intimate detail just what makes up a human being. (talkingpointsmemo.com)
  • Much of the project's utility comes from the fact that the vast majority of the human genome is the same in all humans. (wikipedia.org)
  • Among its findings was that for every $1 invested by the federal government, the Human Genome Project's impact has resulted in the return of $141 to the U.S. economy. (genome.gov)
  • The Human Genome Project's goal was to understand the genetic factors in human disease, paving the way for new strategies for their diagnosis, treatment and prevention. (drlongstreth.com)
  • Here we have developed a map that can guide scientists to regions of the genome that do appear to be functionally relevant, instead of a dead end. (sciencedaily.com)
  • Current technologies and methods are largely limited to coding regions of the genome. (frontiersin.org)
  • We have used highly advanced computer analysis of data to shed light on the parts of the human genome that are rarely researched. (futurity.org)
  • In 2014, through the project Illuminating the Druggable Genome, the National Institutes of Health Common Fund took steps toward mapping the genes in the human genome that code for proteins. (futurity.org)
  • Geoffrey Ginsburg , M.D., Ph.D. , Director of Genomic Medicine, Duke Institute for Genome Sciences and Policy. (genengnews.com)
  • And I'd also like to acknowledge the contributions not only that their scientists, but also scientists from China, made to the vast international consortium that is the Human Genome Project. (archives.gov)
  • The consortium undertook a systematic approach, commencing with 'mapping' the genome. (gimtravel.com)
  • The Human Genome Project, (HGP) an international public consortium of research laboratories led by the United States, and Celera, a private American company, made the announcement jointly, ending months of competition to complete the first sequence of the human genome. (biosafety-info.net)
  • ENCODE Research Consortium Uncovers Surprises Related to Organization and Function of Human Genetic Blueprint. (nih.gov)
  • An international research consortium today published a set of papers that promise to reshape our understanding of how the human genome functions. (nih.gov)
  • By reading the sequence of the human genome, scientists hope to gain an understanding of the underlying code that determines how a complex biological system, such as a human cell, acts and reacts. (ubc.ca)
  • In February of 2001, virtually every media outlet, whether TV news, newspapers, radio, Internet news services, or news magazines, was all worked up about the announcement of the completion of the Human Genome Project. (probe.org)
  • Two large groups of scientists published the first analyses of this human genome sequence in the February 2001 issues of the journals Nature [1] and Science [2]. (ubc.ca)
  • The first cancer exomes were sequenced soon after the completion of the Human Genome Project in 2001. (frontiersin.org)
  • Therefore, researchers needed a refined roadmap to the genome. (probe.org)
  • It may not mean much to Wall Street investors, but researchers worldwide were delighted to hear on May 6 that the mouse genome had finally gone public. (sciencenews.org)
  • The mouse researchers plan to publish their formal analysis of the genome later this year. (sciencenews.org)
  • Celera, the Rockville, Md., company that sequenced the human genome, also completed a mouse genome, but researchers need to pay a subscription fee to access the data. (sciencenews.org)
  • Researchers have completed a draft of the maize genome. (sciencenews.org)
  • In April of 2003, researchers successfully completed the Human Genome Project, under budget and more than two years ahead of schedule. (drlongstreth.com)
  • Researchers have generated a complete map of the areas of the genome that control which genes are "turned on" or "off. (sciencedaily.com)
  • Together with colleagues in Barcelona, researchers at the University of North Carolina at Chapel Hill have generated a complete map of the areas of the genome that control which genes are "turned on" or "off. (sciencedaily.com)
  • It had taken an army of researchers about 13 years and $3 billion to accomplish the task, but finally the researchers had the sequence of about 3 billion nucleotides, the complete genetic code for a human being. (discovermagazine.com)
  • By averaging the variations between these genomes, the researchers came up with their best approximation of what it means to be a healthy, functional person. (discovermagazine.com)
  • In recent years, researchers have made major strides in using DNA sequence data to identify genes, which are traditionally defined as the parts of the genome that code for proteins. (nih.gov)
  • In the pilot phase, ENCODE researchers devised and tested high-throughput approaches for identifying functional elements in the genome. (nih.gov)
  • Since the 1990s, researchers affiliated with the Human Genome Project have tried to map the human genome. (futurity.org)
  • We use ExInAtor to predict drivers from the GENCODE annotation across 1112 entire genomes from 23 cancer types. (nature.com)
  • For years, many considered the Human Genome Project to be biology's equivalent to "the moon shot. (genome.gov)
  • The Human Genome Project, biology's equivalent of the Apollo lunar-landing program, aims to uncover all 100,000 genes that control human development and to detail the DNA alphabet of each. (firebaseapp.com)
  • DNA is a polymer, a repetitive sequence of four molecules, which I will only refer to by their one-letter abbreviations, A, G, C, and T. The human genome sequence is simply the sequence of these four molecules in DNA from all our chromosomes. (probe.org)
  • There are over three billion letters, or base pairs, in the human genome, spread out over 23 pairs of chromosomes. (probe.org)
  • The project will be able to detect chromosomes, genes and proteins which will allow for the prevention of chronic diseases. (alarabiya.net)
  • The Human Genome Project: Genes on Human Chromosome 17 The location of genes is designated by an established labeling system for chromosomes. (pearson.com)
  • Its goal was to read a human genome, all 3-some-billion DNA base pairs of the chromosomes of a human being. (blogspot.com)
  • Each human sperm and egg carries a linear string of 3.3 billion nucleotides of DNA packaged into 23 chromosomes, similar to gigabytes of instructions stored on 23 mass-storage devices in a computer system. (pswscience.org)
  • The HGP is an international effort to characterize all the human genetic material by improving genetic maps, constructing physical maps of entire chromosomes, and determining the complete sequence of the DNA in the human genome. (pswscience.org)
  • The project was an overwhelming success, delivering the first rough draft human genome sequence in 2000 and the final high-quality version in 2003 - ahead of schedule and under budget. (genome.gov)
  • In announcing on June 26, 2000, that the first draft of the human genome had been achieved, Mr. Clinton said it would "revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases. (blogspot.com)
  • Three years earlier, in 2000, President Bill Clinton had announced the completion of the human genome's "rough draft," and called it "the most important, most wondrous map ever produced by humankind. (discovermagazine.com)
  • The low price of its "personal genome" offer is possible because Nebula ships cheek-swab samples to a BGI lab in Hong Kong to be decoded. (technologyreview.com)
  • Psychologist Steven Pinker and geneticist George Church, director of the Personal Genome Project, discuss personalized genomic testing and the extent to which genes may influence behavior. (charlierose.com)
  • From 1988 to 1992, James Watson was head of the Human Genome Project at the National Institutes of Health. (webofstories.com)
  • A second critical goal was to map and sequence the genomes of several important model organisms: specifically, the bacterium E. coli, yeast, the roundworm, fruit fly, and mouse. (probe.org)
  • This DNA sequence contained in a genome contains the complete code that determines which genes and proteins will be present in human cells. (ubc.ca)
  • Knowledge of a genome unlocks the secrets of what DNA is making which proteins. (ubc.ca)
  • Yet we have also discovered that over 50% of the human genome is repetitive sequence that does not code for any proteins and the function of this large portion of "junk" DNA is still puzzling scientists. (ubc.ca)
  • Although some scientists expected to find at least 100,000 genes coding for proteins, only about 30,000-35,000 of such genes appear to be in the human genome. (learner.org)
  • The quest to understand the workings of human cells will not be over until we understand how this genetic blueprint is used to produce a particular set of proteins - the proteome - for each type of cell and how these proteins control the physiology of the cell. (learner.org)
  • Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. (wikipedia.org)
  • The human genome at one time was estimated to have 70,000-100,000 genes. (medscape.com)
  • The HGP was an initiative started in the early 1990's that has involved the efforts of hundreds of scientists to generate high-quality reference sequence for the 3 billion base pairs of nucleotide sequence that make up the human genome. (ubc.ca)
  • To comprehend the titanic scale of the problem, we must understand that the human genome embodies approximately 3 billion base pairs residing in 23 chromosome pairs. (gimtravel.com)
  • The collaborative study focused on 44 targets, which together cover about 1 percent of the human genome sequence, or about 30 million DNA base pairs. (nih.gov)
  • Ten years after the official beginning of the HGP, the first working draft of the human genome was announced. (ubc.ca)
  • This first working draft of the human genome sequence was hailed with much excitement and fanfare as the "completion of the human genome" in the media. (ubc.ca)
  • The 20th anniversary of the publication of the first draft of the human genome1,2 offers an opportunity to track how the project has empowered research into the genetic roots of human disease, changed drug discovery and helped to revise the idea of the gene itself. (alexandergates.net)
  • The HGP started at a meeting of scientists during which the value of knowing the genome sequence of an organism was recognized. (ubc.ca)
  • We should think of the human genome as a database of critical information that serves as a tool for exploring the workings of the cell and, ultimately, understanding how a complex living organism functions. (learner.org)
  • The database is organized into organism-specific overviews that function as portals from which all projects in the database pertaining to that organism can be browsed and retrieved. (lu.se)
  • Francis Collins Craig Venter represent the federally-funded and the commercial efforts of the Human Genome Project. (cshl.edu)
  • In April of 2003, the federally funded Human Genome Project finished the first complete human genome. (discovermagazine.com)
  • The Dubai Health Authority (DHA) launched the human genome project on Saturday which perfects gene scanning to help decrease chronic and genetic diseases, Khaleej Times reported. (alarabiya.net)
  • With genome sequence in-hand scientists are now more effectively able to study gene function and explore new areas of research such as how human variation contributes to different diseases worldwide. (ubc.ca)
  • Although mapping the human genome was a massive and vital project, understanding gene expression is the real key. (drlongstreth.com)
  • Human Genome Sciences has won more than 100 gene patents and filed for roughly another 7000. (biosafety-info.net)
  • 92% of the human genome is euchromatic. (bcgsc.ca)
  • Karen E. Kirk and Jonathan Weiland "Trekking Through The Human Genome: An Individualized Laboratory Project," The American Biology Teacher 68(8), (1 October 2006). (bioone.org)
  • The Human Genome Project (HGP) is fulfilling its promise as the single most important project in biology and the biomedical sciences- one that will permanently change biology and medicine. (blogspot.com)
  • Most of the human genome is uncharted territory -- entire stretches of sequence with no clear function or purpose," said Jason Lieb, Ph.D., associate professor of biology at UNC, a member of the UNC Lineberger Comprehensive Cancer Center and one of the senior authors of the study. (sciencedaily.com)
  • This started a long and complex chain of events which led to approved reprogramming of funds that enabled the OHER to launch the project in 1986, and to recommend the first line item for the HGP, which was in President Reagan's 1988 budget submission, and ultimately approved by Congress. (wikipedia.org)
  • At a news conference, Francis Collins, then the director of the genome agency at the National Institutes of Health, said that genetic diagnosis of diseases would be accomplished in 10 years and that treatments would start to roll out perhaps five years after that. (blogspot.com)
  • Francis Collins, the director of the public project, talks about the media attention, and what it missed during the 'race' coverage. (cshl.edu)
  • Francis Collins, the second director of the Human Genome Project, tells of his excitement about the project. (cshl.edu)
  • piloted the use of NGS to study the exomes of 140 samples of human acute myeloid leukemia (AML) cells in 2003, identifying 6 previously described and 7 undescribed mutations relevant for AMP pathogenesis. (frontiersin.org)
  • Genome wide association studies (GWAS) have identified mutations in non-coding regulatory regions as the most common features associated with human disease. (umassmed.edu)
  • Data from the Human Genome Project surely will be useful in identifying mutations in the thousands of genes that must underlie inherited diseases of the central and peripheral nervous system. (medscape.com)
  • The ENCODE project represents the first systematic effort to determine where all types of functional elements are located and how they are organized. (nih.gov)
  • In a memo to the Assistant Secretary for Energy Research Alvin Trivelpiece, then-Director of the OHER Charles DeLisi outlined a broad plan for the project. (wikipedia.org)
  • In 2010, St. Jude's Research Hospital started the Pediatric Cancer Genome Project, a three-year project to sequence normal and cancer cell genomes of 600 pediatric cancer patients. (genengnews.com)
  • We must work hard to take every thought captive to Christ and see what there is of benefit and what avenues of research and application we need to avoid to preserve human freedom and dignity. (probe.org)
  • Our project is something that we can do now, and it's something that we should do now,'' said Dr. James D. Watson, a Nobel laureate who heads the National Center for Human Genome Research at the National Institutes of Health. (blogspot.com)
  • That same BIOethics principle claims that every citizen of a society has a "strong moral duty" to volunteer for even high risk experimental research "for the greater good of society" -- as in "clinical trials" and related human subject research! (lifeissues.net)
  • Still, it was a massive project that created a base of knowledge and a global research community. (drlongstreth.com)
  • Eric Lander, director of the Whitehead Institute Center for Genome Research, talks about where he thinks media attention should have been focused. (cshl.edu)
  • Stem-cell research has also been highly controversial ethically because it can potentially lead to human cloning. (blogspot.com)
  • So we have many of the moral issues associated with stem-cell research coming up with this project as well, only more so. (blogspot.com)
  • The completion of the Human Genome Project marked a monumental milestone in the realm of genomic research. (gimtravel.com)
  • The path it paved for subsequent genetic research and the illumination it provided into the human genetic makeup is a testament to both the complexity of our construction and the vast potential for our understanding. (gimtravel.com)
  • Otherwise, human genome research will remain a scientific and financial black hole that swallows up all public and private resources without any return either to investors or to improving the health of nations. (biosafety-info.net)
  • The completion of the human genome project has spurred a flurry of research into the exact genetic changes underlying disease. (sciencedaily.com)
  • Carried out by 35 groups from 80 organizations around the world, the research served as a pilot to test the feasibility of a full-scale initiative to produce a comprehensive catalog of all components of the human genome crucial for biological function. (nih.gov)
  • The Human Genome Project (HGP) was the international, collaborative research program whose goal was the complete mapping and understanding of all the genes of human beings. (umassmed.edu)
  • The Special Programme of Research, Development and Research Training in Human Reproduction organized a second interregional and interdisciplinary meeting on cloning (Geneva, 24 October 1997), in conjunction with a regular session of its Scientific and Ethical Review Group. (who.int)
  • To facilitate discussion, it was agreed to distinguish between human cloning for reproductive purposes, that is to produce a human individual, and human cloning for nonreproductive purposes, that is to produce embryos for basic and applied research. (who.int)
  • Some countries have proposed a total ban on any research involving the cloning of human embryos. (who.int)
  • Several participants reported interest among the scientific and medical communities of their countries and regions in the use of somatic cell nuclear transfer techniques to produce cloned human embryos for time-limited basic research on ageing and genetic diseases. (who.int)
  • However, many of these countries, and others, prohibit the production of human embryos specifically for research. (who.int)
  • Our results reveal important principles about the organization of functional elements in the human genome, providing new perspectives on everything from DNA transcription to mammalian evolution. (nih.gov)
  • Even though less than two percent of the mammalian genome corresponds to protein coding regions, it is estimated that about 5% of it is under purifying selection. (umassmed.edu)
  • Previous influenza pandemics have arrived with little or no warning, but the current widespread circulation of H5N1 viruses among avian populations and their potential for increased transmission to humans and other mammalian species may afford us an unprecedented opportunity to prepare for the next pandemic threat. (cdc.gov)
  • In March 2022, a flurry of publications announced the first ever complete assembly of a human genome. (bcgsc.ca)
  • It was declared complete on April 14, 2003, and included about 92% of the genome. (wikipedia.org)
  • The Human Genome Project originally aimed to map the complete set of nucleotides contained in a human haploid reference genome, of which there are more than three billion. (wikipedia.org)
  • So, to get a complete picture of our species' DNA, you might think that the Human Genome Project scientists have to study the DNA of millions of people -- not even close! (amnh.org)
  • The complete string of nucleotide letters that make up the DNA sequence in our cells is often referred to as our genome. (ubc.ca)
  • For scientists, the high-quality reference sequence publicly released in April 2003 represents the first real step to having "finished" human sequence on hand (this draft represents sequence information that is considered to be 99% complete) [3]. (ubc.ca)
  • AMAZING DIVERSITY Corn's amazing diversity is not just kernel deep: The near-complete genome of maize reveals a surprising amount of genetic diversity, even between strains of the crop plant. (sciencenews.org)
  • In 1986 Nobel laureate Renato Dulbecco laid down the gauntlet to the scientific community to sequence the complete human genome. (learner.org)
  • Because the human genome - a human genome - is complete. (bcgsc.ca)
  • Included is construction of complete genetic, physical, and transcript maps, and the analysis of this structural genomic information on a global scale such as in GENOME WIDE ASSOCIATION STUDIES. (bvsalud.org)
  • By looking at our completed sequence, it is predicted that our genome consists of 30,000 to 45,000 genes in each of our cells. (probe.org)
  • For instance, as a first step in understanding the genomic code we have learnt that the human genome is made of 3.2 billion nucleotide bases (of which there are four types: A, C, T, G). It is thought that over 30,000 genes are encoded by this sequence. (ubc.ca)
  • New data from the Human Genome Project suggest this number may be closer to 30,000. (medscape.com)
  • Introduction: The Human Genome Project (HGP) has allowed for advances in diagnosis and prevention of diseases. (bvsalud.org)
  • Medical advances that will spring from the Project. (cshl.edu)
  • The human genome, containing more than three billion nucleotides, is vast. (learner.org)
  • Thanks to the Human Genome Project, we know the genetic code for lipoprotein(a), so inventing an siRNA to target it specifically is trivial. (medscape.com)
  • However, until now, most studies have concentrated on functional elements associated with specific genes and have not provided insights about functional elements throughout the genome. (nih.gov)
  • The ENCODE consortium's major findings include the discovery that the majority of DNA in the human genome is transcribed into functional molecules, called RNA, and that these transcripts extensively overlap one another. (nih.gov)
  • Understanding human genome implies discovering and characterizing all the functional elements encoded within. (umassmed.edu)
  • Dr. Ruth Kirschstein, Dr. Ari Patrinos, scientists of the Department of Health and Human Services and the Department of Energy, who have played an important role in the Human Genome Project. (archives.gov)
  • When the project started, some genomes had already been successfully mapped so it didn't break any new ground. (talkingpointsmemo.com)
  • The US Department of Health and Human Services is coordinating a national strategy to respond to an influenza pandemic that involves multiple agencies, including the Centers for Disease Control and Prevention, the Food and Drug Administration, and the National Institutes of Health (NIH). (cdc.gov)
  • Our pipeline, ExInAtor, identifies genes with excess load of somatic single nucleotide variants (SNVs) across panels of tumour genomes. (nature.com)
  • Being able to coordinate knowledge of their genomes with cellular and biological processes will certainly inform our study of the human genome and its various functions. (probe.org)
  • Craig Venter, Director of Celera, referred to this "historical day in the 100,000 years of human history" when, for the first time, "the human species can read the letters of its own text. (biosafety-info.net)
  • Numerous ethical, legal, and societal issues also accompanied the project. (gimtravel.com)
  • Focussing on entire genomes, rather than just captured exomes, these studies hope to identify driver elements amongst the ~98% DNA that does not encode protein. (nature.com)
  • The parts that ultimately translated into protein exons account for just 2.58% of the genome. (bcgsc.ca)
  • The results highlight how the Human Genome Project (HGP), with its comprehensive list of protein-coding genes, spurred a new era of elucidating the function of the non-coding portion of the genome and paved the way for therapeutic developments. (alexandergates.net)
  • The protein-coding component of these genes makes up just a small fraction of the human genome - 1.5 percent to 2 percent. (nih.gov)
  • The completion of the human genome project (HGP) is an example of newsworthy science that has the potential to have major effects on our society today. (ubc.ca)
  • The capstone, of course, was the completion of the human genome sequence. (learner.org)
  • The completion of the Human Genome Project heralded a new era of genetic medicine. (gimtravel.com)
  • The completion of the Human Genome Project was momentous not just for its achievement but for the legacy it left behind. (gimtravel.com)
  • To help establish the right dose of clopidogrel for a patient, doctors can now test the patient's genome for relevant variants. (genome.gov)
  • The mouse genome is about 15 percent smaller than the human genome, according to the geneticists. (sciencenews.org)
  • Here is a drawing of human chromosome 17 showing its characteristic major banding pattern as it appears after staining. (pearson.com)
  • 388 genes have been identified on human chromosome 17. (pearson.com)