The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the nation’s medical research agency — making important discoveries that improve health and save lives.
NIH established a clinical genomics infrastructure to develop an openly accessible knowledgebase that promotes data sharing and provides standardized infrastructure and tools for determining the clinical relevance of genetic variants through two initiatives: the Clinical Genomics Resource (ClinGen) and the Clinical Variant Database (ClinVar) of clinical variation. ClinGen defines the clinical relevance of genes and variants for use in precision medicine and research by standardizing clinical annotation and interpretation of variants and implementing evidence-based expert consensus assertions. The purpose of this Notice of Funding Opportunity (NOFO) is to establish Expert Panels that will select genes and genomic variants associated with diseases or conditions of high priority to participating NIH Institutes and Centers (ICs) and systematically determine their clinical significance for diagnosis and treatment of these diseases or conditions. The Genomic Curation Expert Panels funded through this NOFO are required to utilize the NHGRI Clinical Genomics Resource (ClinGen) and the NCBI ClinVar procedures, interfaces, tools, and informatics infrastructure.