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

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...

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Detalles Bibliográficos
Autores principales: Dalton, Karen P., Rehm, Heidi L., Wright, Matt W., Mandell, Mark E., Krysiak, Kilannin, Babb, Lawrence, Riehle, Kevin, Nelson, Tristan, Wagner, Alex H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114895/
https://www.ncbi.nlm.nih.gov/pubmed/36541006
Descripción
Sumario: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).

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