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通过全外体测序 (WES) 检测生殖线CNV数据分析增强了罕见遗传疾病的解决方案

Faidon-Nikolaos Tilemis¹, Nikolaos M Marinakis^1,2, Danai Veltra^1,2

¹Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.

|July 29, 2023

概括

整体外体测序 (WES) 现在可以有效检测复制数变异 (CNV),增加罕见疾病诊断率. 这一进步改善了遗传缺陷的识别,提供了更快,更全面的诊断解决方案.

科学领域:

基因组学就是基因组学.
罕见疾病遗传学罕见疾病遗传学
生物信息学是一种生物信息学.

背景情况:

整体外体测序 (WES) 对于诊断罕见疾病至关重要.
拷贝数变异 (CNV) 以前很难使用WES检测.
生物信息学工具的进步使WES数据的敏感CNV检测成为可能.

研究的目的:

评估ExomeDepth算法在未解决的罕见疾病病例中从WES数据中调用CNV的实用性.
确定CNV检测对WES整体诊断产量的影响.

主要方法:

将ExomeDepth算法应用于454名尚未解决的罕见病患者的WES数据.
根据ACMG/ClinGen的建议调用,评估和分类CNV.
使用可用方法验证已识别的CNV.

主要成果:

在40名额外的患者中确定了致病性CNV.
WES的整体诊断产量从50.7%增加到55%.
22个CNV得到了验证,其中包括5个新型变异.

结论:

实施CNV呼叫的ExomeDepth可以提高WES对罕见疾病的诊断能力.
从WES中检测CNV和单核酸变异 (SNV) 简化了诊断,并澄清了复杂的基因型.
带有CNV分析的WES是罕见疾病诊断的关键一级测试.

关键词:

副本编号变种副本编号变种非常深的深度.整体外体序列测序整体外体序列测序复杂的基因型复杂的基因型.诊断收益率是指诊断收益率.罕见的疾病罕见的疾病

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