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News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs address a major barrier to incorporating … treatment. Information on the gene variants is stored in ClinVar, which is funded and maintained by NIH's National … Library of Medicine. "Through the work of ClinGen and ClinVar, more than 730 researchers, clinicians and curators …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… data and making them accessible are at the heart of ClinVar, a database of variants and their clinical interpretations, and a key component of ClinGen. ClinVar is supported by the National Center for Biotechnology … for the variants they have accumulated, ClinGen and ClinVar seek to combine them into one common central …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… and patients through centralized databases (such as ClinVar) and are working to standardize the clinical … variant interpretations into NCBI’s publicly available ClinVar database and sharing gene-level interpretations … the submission of sequence and structural variants to ClinVar Sequence Variant Interpretation Leslie Biesecker …
News Release
This publication and the release of the accompanying data address knowledge gaps across genomics and are certain to have a continuing impact in the field.
… finding that some variants annotated in a key data base, ClinVar , as “likely pathogenic” are common, providing …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… contributors of clinically relevant genomic variants to ClinVar are commercial laboratories? These groups are doing …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… dbVar Clinical and Phenotypic Information on Variants: ClinVar Other: Clinical and Phenotypic Information on …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… With roughly 40 consortium members and a partnership with ClinVar , ClinGen works to improve data sharing of variant …
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.
… are available to researchers and clinicians via the ClinVar database. This is the first time that the FDA has …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
… the resulting information to researchers and clinicians. ClinVar is a freely accessible, public archive of reports of … Research Program Celebrates 25 Years … NIH's ClinGen and ClinVar Programs … New Policy for Summary Results from …