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

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing - 1 Jan 2023

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

Abstract excerpt

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,...

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PMID: 36541006
PMCID: PMC10114895

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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