Accessing clinical-grade genomic classification data through the ClinGen Data Platform

Karen P. Dalton, Heidi L. Rehm, Matt W. Wright, Mark E. Mandell, Kilannin Krysiak, Lawrence Babb, Kevin Riehle, Tristan Nelson, Alex H. Wagner

Research output: Contribution to journalConference articlepeer-review


The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platform of informatics resources backed by standardized data models. In this workshop we demonstrate our publicly available resources including curation interfaces, (Variant Curation Interface, CIViC), supporting infrastructure (Allele Registry, Genegraph), and data models (SEPIO, GA4GH VRS, VA).

Original languageEnglish
Pages (from-to)531-535
Number of pages5
JournalPacific Symposium on Biocomputing
Issue number2023
StatePublished - 2023
Event28th Pacific Symposium on Biocomputing, PSB 2023 - Kohala Coast, United States
Duration: Jan 3 2023Jan 7 2023


  • ClinGen
  • Clinical Genomics
  • Data Standards
  • GA4GH
  • Variant Interpretation


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