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Updated: Jul 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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CMAT:ClinVar映射和注释工具包

April Shen1, Marcos Casado Barbero1, Baron Koylass1

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom.

Bioinformatics advances
|February 22, 2024
PubMed
概括

CMAT精确地丰富了ClinVar人类变异数据与疾病本体学关联. 该软件工具包和协议提高了对遗传变异临床意义和功能后果的理解.

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