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Updated: Jul 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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在一个年轻的队列中突然无法解释死亡的死后遗传分析:一个全外因组测序研究

Shouyu Wang1, Yongsheng Chen2, Jianghua Du1

  • 1Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, 131 Dongan Road, Xuhui District, Shanghai, 200032, People's Republic of China.

International journal of legal medicine
|August 25, 2023
PubMed
概括

在年轻人中,突然无法解释的死亡 (SUD) 通常是未被诊断的. 整体外因子测序发现了与肌肉病相关的新型基因,在中国队列中,诊断产量从51.9%增加到66.7%.

关键词:
有害变异的变体遗传负担是一种遗传负担.突然的无法解释的死亡.易感性基因是一种敏感性基因.整体外基因组测序的测序

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