Search Results
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 … "Deciding which genomic variants are important players in disease is probably …
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 … people with and without a disease are compared to find the genomic regions containing variants that affect disease risk. …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … 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.
… As a growing number of medical centers and laboratories are sequencing patients' DNA, they continue to uncover millions of DNA differences in genes and the regions between the genes. But doctors have struggled to know which of these inherited differences - variants - really matter. …
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
… A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. … A pathogenic variant is a genomic variant that may increase a person’s risk of … condition but increases the risk for it. Pathogenic variants can be inherited from a parent or can occur …
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
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… Databases such as the 1000 Genomes Project and the Exome Aggregation Consortium (ExAC) harbor large … to re-contact individuals with genotypes of interest and investigate the health consequences of their genes and gene variants. … and Inova Health System researchers are launching The Genomic Ascertainment Cohort (TGAC), a two-year pilot project …
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 … their findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies.  …
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 … the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. Watch the NHGRI DNA Day website for 2019 events and subscribe to the NHGRI DNA Day newsletter. Join in the …