The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation.

ABSTRACT: The Clinical Genome Resource (ClinGen) is a National Institutes of Health-funded program founded 10 years ago that defines the clinical relevance of genes and variants for medical and research use. ClinGen working groups develop standards for data sharing and curating genomic knowledge. Expert panels, with >2500 active members from 67 countries, curate the validity of monogenic disease relationships, pathogenicity of genetic variation, dosage sensitivity of genes, and actionability of gene-disease interventions using ClinGen standards, infrastructure, and curation interfaces. Results are available on clinicalgenome.org and classified variants are also submitted to ClinVar, a publicly available database hosted by the National Institutes of Health. As of January 2024, over 2700 genes have be

SUBMITTER: ClinGen Consortium. Electronic address: [e-mail] 

PROVIDER: S-EPMC11984750 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature