1.
Bioinform Adv
; 4(1): vbae018, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38384863
RESUMO
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.