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Article

VarGuideAtlas: a repository of variant interpretation guidelines.

Database : the journal of biological databases and curation - 11 Mar 2025

Costa Mireia, García S Alberto, Pastor Oscar

Abstract excerpt

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...

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PMID: 40067792
DOI: 10.1093/database/baaf017
PMCID: PMC11895764

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