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News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and investigate the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To … them to recall genotyped people and examine the genes and gene variants' influence on their phenotypes, an individual's … traits or symptoms and then searching for genes or gene variants that cause or contribute to them. NIH will …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation … test variants to determine which ones can affect gene expression in common human diseases. Hyejung Won, Ph.D. … variants in the regulatory elements increase or decrease gene activity and how the variants are affecting traits in …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… Gene Pool … A gene pool is the total genetic diversity found within a … Diversity, Genes, Extinction, Population Genetics … A gene pool refers to the combination of all the genes … present in a reproducing population or species. A large gene pool has extensive genomic diversity and is better able …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… of Cardiovascular Disease in Africans Americans Study (GENE-FORECAST®) study is developing a community-based cohort … ancestry-related genomic variation in African-Americans. … GENE-FORECAST® will test the working hypothesis that … pressure), laboratory tests (e.g. lipid levels, kidney function), social determinants profiles (e.g. socioeconomic …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… Ph.D. … The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites. … The … over five years to the Impact of Genomic Variation on Function (IGVF) consortium, initiated and funded by NIH’s … to understand how genomic variation alters human genome function, and how such variation influences human health and …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
… Tumor Suppressor Gene … A tumor suppressor gene directs the production of a protein that is part of the … the protein it encodes is not produced or does not function properly, and as a result, uncontrolled cell …
Educational Resources
Gene mapping is the process of establishing the locations of genes on the chromosomes.
… Gene Mapping … Gene mapping is the process of establishing the locations of … Analysis, Genome Sequencing, DNA Sequencing, Chromosomes … Gene mapping refers to the process of determining the … on chromosomes. Today, the most efficient approach for gene mapping involves sequencing a genome and then using …
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
… Gene Amplification … Gene amplification is an increase in the number of copies of a gene sequence. … DNA Sequence, Cancer, PCR, Polymerase Chain …
Educational Resources
Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule.
… Gene Expression … Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule. … … which the information encoded in a gene is turned into a function. This mostly occurs via the transcription of RNA …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… of Health (NIH) researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 …