CMAT: ClinVar Mapping and Annotation Toolkit.

Authors :: Shen A
Barbero MC
Koylass B
Tsukanov K
Cezard T
Keane TM
Source :: Bioinformatics advances [Bioinform Adv] 2024 Feb 07; Vol. 4 (1), pp. vbae018. Date of Electronic Publication: 2024 Feb 07 (Print Publication: 2024).
Publication Year :: 2024
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.<br />Availability and Implementation: The software and ontology mappings can be obtained from: https://github.com/EBIvariation/CMAT.<br />Competing Interests: None declared.<br /> (© The Author(s) 2024. Published by Oxford University Press.)