VarGuideAtlas: a repository of variant interpretation guidelines.

Abstract

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 interface with advanced search capabilities, enabling clinicians and researchers to efficiently find relevant guidelines tailored to specific genes, diseases, or variant types. We employ ontologies to characterize each guideline, ensuring consistency and improving interoperability with bioinformatics tools. VarGuideAtlas represents a significant advance toward standardizing variant interpretation practices, facilitating more informed decision-making, improved clinical outcomes, and more precise genomic research. VarGuideAtlas is publicly accessible via a web-based platform (https://genomics-hub.pros.dsic.upv.es:3016/).