通过扩展基因组和RNA拼接分析,在遗传性心脏病中增加了遗传诊断的产量

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Yuchen Chang1, Emma M Rath2, Magdalena Soka3

  • 1Bioinformatics and Molecular Genetic Group at Centenary Institute, The University of Sydney, NSW, Australia; Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW, Australia.

Genetics in medicine : official journal of the American College of Medical Genetics
|November 1, 2025
PubMed
概括

基因组测序通过分析额外的基因和线粒体基因组,提高了心肌病和心律失常综合征的遗传诊断率. 功能性研究改善了变体分类,增加了心脏遗传测试中的诊断产量.

关键词:
节律失常综合征 节律失常综合征心肌病是一种心肌病.遗传测试是一种基因测试.基因组测序是指基因组的测序.

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