Article
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).
Cold Spring Harbor molecular case studies - 1 Oct 2019
Ritter Deborah I, Rao Shruti, Kulkarni Shashikant, Madhavan Subha, Offit Kenneth, Plon Sharon E
Abstract excerpt
We describe the Clinical Genome Resource (ClinGen) cancer-related curation activities and the importance of curation to the evolving state of variant interpretation in a clinical context for both pediatric and adult cancer patients. We highlight specific examples from the CDH1 and PTEN Variant Curation Expert Panels (VCEPs) of the FDA-recognized process by which ClinGen VCEPs specify the American College of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
