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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.
… Steven Benowitz … 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. …
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 … with the National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program 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.
… 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 … of 10,000 human genomes and exomes, the 1-2 percent of the genome that contains protein-coding genes. Once the database …
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
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 … The investigators were supported by the National Human Genome Research Institute (NHGRI) Genomics and Randomized … 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 (VUS) … 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 … 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 … intended to commemorate the completion of the Human Genome Project in 2003 and the discovery of DNA's … challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched in …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian … the CMGs will define the state-of-the-art study designs and methods to find the variants and genes underlying Mendelian disorders. … The …