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副本数变异分析改善了多样化的儿科外基因组测序队列中的诊断产量

Elan Hahn^1,2, Avinash V Dharmadhikari^3,4, Alexander L Markowitz³

¹Department of Pathology and Laboratory Medicine, Sinai Health System, Toronto, ON, Canada.

NPJ genomic medicine

|February 21, 2025

概括

对外体数据的同时复制数变异 (CNV) 分析增加了儿科患者孟德尔乱的诊断产量. 这种方法在不同的表型和祖先中是可行的.

科学领域:

基因组学就是基因组学.
临床遗传学临床遗传学
儿科医学儿科医学

背景情况:

外体序列是门德尔乱的标准,但不是典型的副本数变体 (CNVs).
在遗传性疾病中,CNVs至关重要,但它们通过外体数据的检测往往被忽视.
将CNV分析与外体序列测序相结合,可以提高诊断率.

研究的目的:

使用外体数据评估并发拷贝数变异 (CNV) 分析的额外诊断产量.
评估这种方法在一个庞大,多样化的儿科队列中的可行性和有效性.
为了确定诊断产量是否在不同的祖先和表型之间有所不同.

主要方法:

对1538名儿科患者的外体数据进行了回顾性分析.
使用NxClinical软件进行的同时复制数变异 (CNV) 分析.
人类现象型本体学术语用于变体优先级;索马里语用于祖先分析.
分析包括外来删除,大型重新排列,状体和马赛克的发现.

主要成果:

在70名患者 (4.6%) 中发现了诊断副本数变异 (CNV).
检测到的CNV包括一系列的基因变异,从外来遗传缺失到动脉增生病.
不同祖先之间没有观察到诊断产量的显著差异.
在各种表型,参考来源和祖先中证明了可行性.

结论:

对外体数据的并发拷贝数变异 (CNV) 分析是可行的,并增加了儿科门德尔乱的诊断产量.
这种综合方法增强了外基因组测序的诊断能力.
该方法在不同患者群体,表型和转诊来源中有效.

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