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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 … estimate that each person's genome contains between three and four million genomic variants, which are specific changes …
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 … or in other traits. The awards are for three years each and total approximately $13 million, pending the availability …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… sequencing effort 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 …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… Steven Benowitz … As a growing number of medical centers and laboratories are sequencing patients' DNA, they continue … 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 …
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.
… Mjoseth … Databases such as the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC) harbor large … 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 …
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, … in only a few people. Most of these variants do not affect disease risk, response to drugs or other traits such as … How can we figure out which variants affect the function and regulation of genes? A start to interpreting variation is …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … study, researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the …
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 … information is required to determine if the variant is disease related. Such information may include more extensive population data, functional studies, and tracing the variant in other family members who have or …
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.
… the most recent 'polar vortex' becoming a distant memory and with baseball's spring training now in full swing, we … 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 …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… the CMGs will define 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 …