CMAT: ClinVar Mapping and Annotation Toolkit

Abstract

Abstract Summary Semantic ontology mapping of clinical descriptors with disease outcome is essential. ClinVar is a key resource for human variation with known clinical significance. We present CMAT, a software toolkit and curation protocol for accurately enriching ClinVar releases with disease ontology associations and complex functional consequences. Availability and implementation The software and ontology mappings can be obtained from: https://github.com/EBIvariation/CMAT.