The progression of the ClinGen gene clinical validity classification over time

Abstract excerpt

In order for ClinGen to maintain up-to-date gene-disease clinical validity classifications for use by clinicians and clinical laboratories, an appropriate timeline for reevaluating curated gene-disease associations will need to be determined. To provide guidance on how often a gene-disease association should be recurated, a retrospective analysis of 30 gene curations was performed. Curations were simulated at...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cancer Genomics and Diagnostics
• Share to Genetic factors in colorectal cancer
• Share to Genomics and Rare Diseases