Work

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

Year: 2018

Type: article

Abstract: Information.The mission of ClinGen is to provide authoritative, publicly available resources that define the clinical relevance of genes and variants for use in precision medicine and research (Rehm et al., 2015).ClinGen and ClinVar have a close partnership to improve sharing and access to genomic variant knowledge (ClinGen, 2018b).A major challenge for clinical laboratories has been to decide which genes have sufficient evidence to support their use in clinical care.To aid the community in this effort, ClinGen developed a method to ORCID

Source: Human Mutation

DOI: 10.1002/humu.23654

Authors: Heidi L. Rehm, Jonathan S. Berg, Sharon E. Plon

Institutions: Broad Institute, Massachusetts General Hospital, University of North Carolina at Chapel Hill, Baylor College of Medicine

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Human Genome Research Institute