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Updated: Jul 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
CMAT: ClinVar Mapping and Annotation Toolkit
April Shen1, Marcos Casado Barbero1, Baron Koylass1
1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom.
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.
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