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基于外体序列的副本数变异分析在门德尔乱中的诊断产量:临床应用

Tahir Atik¹, Enise Avci Durmusalioglu², Esra Isik¹

¹Pediatric Genetics, Ege University, Izmir, Turkey.

BMC medical genomics

|October 1, 2024

概括

外体序列检测有效地检测在门德尔障碍的副本数变异 (CNVs). 这项分析确定了12种致病性CNV,证明了其在遗传诊断中的价值.

科学领域:

遗传学遗传学是一个
生物信息学是一种生物信息学.
医学基因组学医学基因组学

背景情况:

副本数变异 (CNVs) 是孟德尔障碍的重要贡献者.
下一代测序 (NGS) 和生物信息学已经推进了CNV检测.
外基组测序为识别致病性遗传变异提供了一种强大的方法.

研究的目的:

评估疑似孟德尔病症患者的基于外体测序的CNV分析的诊断产量.
评估整体外因子测序 (WES) 和临床外因子测序 (CES) 对于 CNV检测的临床实用性.
扩大已知的内源性CNVs的临床谱.

主要方法:

对449名怀疑患有孟德尔病的患者进行了分析.
进行了整体外因子测序 (WES) 和临床外因子测序 (CES).
使用GATK-gCNV工具进行复制号变异识别.

主要成果:

在队列中确定了12种致病性CNV.
在CNV检测方面实现了2.67%的诊断收益率.
与患者的临床发现相关联的已识别的CNV.

结论:

基于外体测序的CNV分析是诊断孟德尔乱的宝贵工具.
CNV在孟德尔病的病因学中起着至关重要的作用.
这种方法应在常规基因诊断工作流程中考虑.

关键词:

进行CNV分析.副本数量的变化副本数量的变化门德尔的障碍门德尔的障碍门德尔的障碍这是下一代测序.

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