ClinGen - Clinical Genome Resource
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
Key Goals
Several key goals support our overall mission of building a genomic knowledge base to improve patient care:
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Aggregate: Aggregate and share relevant data about genes, genetic conditions, and the genetic variants that cause them through the development of infrastructure and data standards.
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Curate: Leverage our global expert curation network to expand our critical public resource of clinically relevant genes and variants through standardized evidence frameworks and advanced biocuration methods.
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Disseminate: Maximize the utility of the curated genome in both clinical and research settings by adhering to Findable, Accessible, Interoperable, and Reusable (FAIR) principles and engaging users to ensure the widespread use and accessibility of resources, tools, and curation results.
ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three core grants:
- Baylor University/Stanford University - U24HG009649 (with co-funding from the National Cancer Institute)
- Broad Institute/Geisinger Clinic - U24HG006834
- University of North Carolina, Chapel Hill - U24HG009650
ClinGen also receives funding through the following two affiliate grants:
- Stanford University/St. Jude Children’s Research Hospital - U24HG013077, U24HG010615
- Washington University of St. Louis/Nationwide Children’s Hospital - U24CA275783
ClinGen also receives funding support for its gene and variant curation expert panels from multiple NIH institutes and centers as well as through various partnerships.
ClinVar is supported by the Intramural Research Program of the NIH, National Library of Medicine. To learn more about the relationship between ClinGen and ClinVar, visit the ClinGen and ClinVar Partnership page.
