Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Journal
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
ISSN: 2335-6936
Titre abrégé: Pac Symp Biocomput
Pays: United States
ID NLM: 9711271
Informations de publication
Date de publication:
2023
2023
Historique:
entrez:
21
12
2022
pubmed:
22
12
2022
medline:
23
12
2022
Statut:
ppublish
Résumé
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).
Identifiants
pubmed: 36541006
pii: 9789811270611_0048
pmc: PMC10114895
mid: NIHMS1891029
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
531-535Subventions
Organisme : NHGRI NIH HHS
ID : R35 HG011949
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009649
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG006834
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA237719
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG009650
Pays : United States
Références
Cell Genom. 2021 Nov 10;1(2):
pubmed: 35072136
JCO Clin Cancer Inform. 2020 Mar;4:245-253
pubmed: 32191543
Cell Genom. 2021 Nov 10;1(2):
pubmed: 35311178
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nat Genet. 2017 Jan 31;49(2):170-174
pubmed: 28138153
Nat Cancer. 2022 May;3(5):522-525
pubmed: 35624339
Genome Med. 2019 Nov 29;11(1):76
pubmed: 31779674
Genome Med. 2022 Jan 18;14(1):6
pubmed: 35039090
Genet Med. 2022 May;24(5):986-998
pubmed: 35101336
Hum Mutat. 2018 Nov;39(11):1690-1701
pubmed: 30311374
J Mol Diagn. 2017 Jan;19(1):4-23
pubmed: 27993330