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Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is … using a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty … then investigated which of these potentially bad gene variants contributed to the patients' undiagnosed …
Educational Resources
The gene is the basic physical unit of inheritance.
… Gene … The gene is the basic physical unit of inheritance. … Inheritance, Gene, Double Helix, DNA, DNA Sequence … The gene is considered the basic unit of inheritance. Genes are …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… Candidate Gene … A candidate gene is a gene whose chromosomal location is associated with a … Traits, Disease, Linkage Analysis … The term candidate gene refers to a gene that is believed to be related to a …
Educational Resources
Gene environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment.
… Gene Environment Interaction … Gene environment interaction is an influence on the … … Genes, Environmental Factors, Genetics, DNA … Gene–environment interaction refers to the interplay of genes … ultraviolet radiation from the sun and social context. … Gene environment interaction is an influence on the …
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 …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Resource  under their recent Public Human Genetic Variant Database guidance. This program is part of an FDA … challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched … As of February 1, 2019, ClinGen has classified 670 gene-disease pairs. ClinGen is primarily funded by the NHGRI, …
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 … and characterization of the potential effect of the DNA variant of interest on human systems biology. In some cases …
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
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 … cell division. … BRCA1, BRCA2, Cancer, Oncogene, Cell, Gene, Mutation … A tumor suppressor gene encodes a protein …