VarGuideAtlas: a repository of variant interpretation guidelines
Database (Oxford) 2025-03-12
Summary:
Variant interpretation guidelines guide the process of determining the role of DNA variants in patients' health. Currently, hundreds of guidelines exist, each applicable to a particular clinical domain. However, they are scattered across multiple resources and scientific literature. To address this issue, we present VarGuideAtlas, a comprehensive repository of variant interpretation guidelines that compiles information from ClinGen, ClinVar, and PubMed. Our repository offers a user-friendly web...