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.
© The Author(s) 2024. Published by Oxford University Press.