CMAT: ClinVar Mapping and Annotation Toolkit.
Ontology highlight
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.
SUBMITTER: Shen A
PROVIDER: S-EPMC10879749 | biostudies-literature | 2024
REPOSITORIES: biostudies-literature
Publications
CMAT: ClinVar Mapping and Annotation Toolkit.
Shen April A Barbero Marcos Casado MC Koylass Baron B Tsukanov Kirill K Cezard Tim T Keane Thomas M TM
Bioinformatics advances 20240207 1
<h4>Summary</h4>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.<h4>Availability and implementation</h4>The software and ontology mappings can be obtained from: https://github.com/EBIvariation/CMAT. ...[more]
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