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.
… While the latest genome 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.
… 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 … of funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National Cancer …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Disease Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. … for enough different examples of disease architectures and study designs to better understand the general principles …
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 person’s risk of developing a condition, disorder or disease. … a person’s risk of developing a condition, disorder or disease. In many cases, carrying a pathogenic variant does … 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
… of many people are sequenced, millions of sites in the genome differ among those people. Some of these genetic variants are common, such as the variants for blood types (A, … 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. … of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. Once the database …
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).
… When analysis of a patient’s genome identifies a variant, but it is unclear whether that … When analysis of a patient’s genome identifies a variant, but it is unclear whether that … significance (abbreviated VUS). In many cases, these variants are so rare in the population that little …
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 … intended to commemorate the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. …