Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Pac Symp Biocomput
; 28: 531-535, 2023.
Article
em En
| MEDLINE
| ID: mdl-36541006
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).
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Biologia Computacional
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article