CMAT: ClinVar Mapping and Annotation Toolkit.

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