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

Authors :
Dalton KP
Rehm HL
Wright MW
Mandell ME
Krysiak K
Babb L
Riehle K
Nelson T
Wagner AH
Source :
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing [Pac Symp Biocomput] 2023; Vol. 28, pp. 531-535.
Publication Year :
2023

Abstract

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).

Details

Language :
English
ISSN :
2335-6936
Volume :
28
Database :
MEDLINE
Journal :
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Publication Type :
Academic Journal
Accession number :
36541006