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.
Several key goals support our overall mission of building a genomic knowledge base to improve patient care:
- Share genomic and phenotypic data provided by clinicians, researchers, and patients through centralized databases for clinical and research use
- Standardize the clinical annotation and interpretation of genomic variants
- Implement evidence-based expert consensus for curating genes and variants
- Improve understanding of variation in diverse populations to realize interpretation of genetic testing on a global scale
- Develop machine-learning algorithms to improve the throughput of variant interpretation
- Assess the “medical actionability” of genes and variants
- Structure and provide access to genomic knowledge for use in EHR ecosystems
- Disseminate the collective knowledge and resources for unrestricted use in the community
Please learn more about ClinGen’s many working groups here.
Primary Funding Sources
ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three grants:
ClinGen also receives support for content curation from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), through the following three grants:
ClinVar is supported by the Intramural Research Program of the NIH, National Library of Medicine.