ClinGen Informatics and Software

Описание: Description: In this video, learn about the various informatics and software behind the ClinGen Curation Interfaces, including the Linked Data Hub (LDH), Evidence Repository (ERepo), Criteria Specification Registry (CSpec), and Variant Prioritization (VP) tool.
Presenters: Kevin Riehle, MS (Baylor College of Medicine, ClinGen Informatics Team), Christine Preston PhD (Stanford University, ClinGen Informatics Team)
Web pages: ERepo - https://erepo.clinicalgenome.org/evrepo/ ; LDH - https://ldh.clinicalgenome.org/ldh/ui/
Recorded on: March 25th, 2021, by the ClinGen Biocurator Working Group