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News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … person's genome contains between three and four million genomic variants, which are specific changes in DNA sequence. …
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.
… the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To address … and Inova Health System researchers are launching The Genomic Ascertainment Cohort (TGAC), a two-year pilot project … consent to be re-contacted will participate in TGAC.   The Genomic Ascertainment Cohort (TGAC) offers a …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… computational approaches for searching among millions of genomic variants to find those that make a difference in disease … people with and without a disease are compared to find the genomic regions containing variants that affect disease risk. …
Talking Glossary
When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).
… significance (abbreviated VUS). In many cases, these variants are so rare in the population that little …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… struggled to know which of these inherited differences - variants - really matter. … For the vast majority of the more … Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make … for patients. "Much of what we hope to accomplish in genomic medicine will be fundamentally flawed if we don't …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… genome differ among those people. Some of these genetic variants are common, such as the variants for blood types (A, B, AB, or O), while many of the variants are rare, seen in only a few people. Most of these …
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.
… challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched in … research and to develop an expert-curated collection of genomic variant pathogenicity information. ClinGen also … Institute of Child Health and Human Development. ClinGen genomic variant interpretations are available to researchers …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… the state-of-the-art study designs and methods to find the variants and genes underlying Mendelian disorders. … The … genome-wide sequencing technology and other complementary genomic approaches to discover the genetic basis that … Genome Sequencing, Dna Sequencing, Gene Variants, Genomic Variant, Mendelian Disorders … The centers define the …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. … designs to better understand the general principles of genomic architecture underlying common, complex inherited … sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes. …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… archive information about clinically relevant genes and genomic variants for use in precision medicine. The National Human … availability of information about which genes and genomic variants are relevant to human disease. NHGRI …