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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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
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author Dalton, Karen P.
Rehm, Heidi L.
Wright, Matt W.
Mandell, Mark E.
Krysiak, Kilannin
Babb, Lawrence
Riehle, Kevin
Nelson, Tristan
Wagner, Alex H.
author_facet Dalton, Karen P.
Rehm, Heidi L.
Wright, Matt W.
Mandell, Mark E.
Krysiak, Kilannin
Babb, Lawrence
Riehle, Kevin
Nelson, Tristan
Wagner, Alex H.
author_sort Dalton, Karen P.
collection PubMed
description 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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spelling pubmed-101148952023-04-19 Accessing clinical-grade genomic classification data through the ClinGen Data Platform Dalton, Karen P. Rehm, Heidi L. Wright, Matt W. Mandell, Mark E. Krysiak, Kilannin Babb, Lawrence Riehle, Kevin Nelson, Tristan Wagner, Alex H. Pac Symp Biocomput Article 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). 2023 /pmc/articles/PMC10114895/ /pubmed/36541006 Text en https://creativecommons.org/licenses/by-nc/4.0/Open Access chapter published by World Scientific Publishing Company and distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC) 4.0 License.
spellingShingle Article
Dalton, Karen P.
Rehm, Heidi L.
Wright, Matt W.
Mandell, Mark E.
Krysiak, Kilannin
Babb, Lawrence
Riehle, Kevin
Nelson, Tristan
Wagner, Alex H.
Accessing clinical-grade genomic classification data through the ClinGen Data Platform
title Accessing clinical-grade genomic classification data through the ClinGen Data Platform
title_full Accessing clinical-grade genomic classification data through the ClinGen Data Platform
title_fullStr Accessing clinical-grade genomic classification data through the ClinGen Data Platform
title_full_unstemmed Accessing clinical-grade genomic classification data through the ClinGen Data Platform
title_short Accessing clinical-grade genomic classification data through the ClinGen Data Platform
title_sort accessing clinical-grade genomic classification data through the clingen data platform
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114895/
https://www.ncbi.nlm.nih.gov/pubmed/36541006
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