CMAT: ClinVar Mapping and Annotation Toolkit
BIOINFORMATICS ADVANCES(2024)
摘要
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.
更多查看译文
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要