CMAT: ClinVar Mapping and Annotation Toolkit.

Autor:	Shen A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom., Barbero MC; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom., Koylass B; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom., Tsukanov K; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom., Cezard T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom., Keane TM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom.
Jazyk:	angličtina
Zdroj:	Bioinformatics advances [Bioinform Adv] 2024 Feb 07; Vol. 4 (1), pp. vbae018. Date of Electronic Publication: 2024 Feb 07 (Print Publication: 2024).
DOI:	10.1093/bioadv/vbae018
Abstrakt:	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. Competing Interests: None declared. (© The Author(s) 2024. Published by Oxford University Press.)
Databáze:	MEDLINE
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