Community Knowledge Sharing

Clinical Genome Resource (ClinGen)

Investigators at Partners Healthcare Personalized Medicine are among a group of researchers involved in the Clinical Genome Resource (ClinGen), an effort funded by the National Institute of Health (NIH) that is "dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research." 

The goals of ClinGen include:

• Standardize clinical assessment of variants and deposition into the ClinVar
• Improve algorithms for variant interpretation
• Develop a consensus process for identifying clinically relevant variants
• Curate genes and variants within multiple clinical domains
• Build a publically available portal for disseminating consensus information on clinically relevant genomic variants
• Explore ways to integrate genomic information into electronic health records

The Laboratory for Molecular Medicine fully supports public data sharing and has already contributed more than 24,000 variants and full interpretations to ClinVar. 

For more information about ClinGen please visit clinicalgenome.org