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...

Link:

https://pubmed.ncbi.nlm.nih.gov/40067792/?utm_source=Other&utm_medium=rss&utm_campaign=journals&utm_content=101517697&fc=None&ff=20250312183118&v=2.18.0.post9+e462414

From feeds:

📚BioDBS Bibliography » Database (Oxford)

Tags:

Authors:

Mireia Costa, Alberto García S, Oscar Pastor

Date tagged:

03/12/2025, 18:31

Date published:

03/11/2025, 06:00