TY - JOUR
T1 - Accessing clinical-grade genomic classification data through the ClinGen Data Platform
AU - Dalton, Karen P.
AU - Rehm, Heidi L.
AU - Wright, Matt W.
AU - Mandell, Mark E.
AU - Krysiak, Kilannin
AU - Babb, Lawrence
AU - Riehle, Kevin
AU - Nelson, Tristan
AU - Wagner, Alex H.
N1 - Publisher Copyright:
© 2022 The Authors.
PY - 2023
Y1 - 2023
N2 - 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).
AB - 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).
KW - ClinGen
KW - Clinical Genomics
KW - Data Standards
KW - GA4GH
KW - Variant Interpretation
UR - http://www.scopus.com/inward/record.url?scp=85144311192&partnerID=8YFLogxK
U2 - 10.1142/9789811270611_0048
DO - 10.1142/9789811270611_0048
M3 - Conference article
C2 - 36541006
AN - SCOPUS:85144311192
SN - 2335-6928
SP - 531
EP - 535
JO - Pacific Symposium on Biocomputing
JF - Pacific Symposium on Biocomputing
IS - 2023
T2 - 28th Pacific Symposium on Biocomputing, PSB 2023
Y2 - 3 January 2023 through 7 January 2023
ER -