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Clin Chem:使用捕获测序数据检测拷贝数变异检出率如何?

2020-04-05 MedSci原创 MedSci原创

捕获测序(CS)广泛应用于检测较小的遗传变异,如单核苷酸变异或indels。基于深度比较的算法正逐步成为从CS数据中检测拷贝数变化(CNV)的有效方法。

捕获测序(CS)广泛应用于检测较小的遗传变异,如单核苷酸变异或indels。基于深度比较的算法正逐步成为从CS数据中检测拷贝数变化(CNV)的有效方法。然而,针对基于CS的CNV检测在临床诊断中的有效性,目前尚未进行大样本量的系统评价。

本研究回顾性研究了3010例进行CS检测的样本。研究人员使用我们使用了68个染色体微阵列分析阳性样品TS和1520个参考样品,建立了一个强大的CS-CNV检测流程。该方法用于检测1422个未诊断样本(未诊断集合[UDS])中与临床相关的候选CNV。候选CNVs通过另一种方法进行了确认。

CS-CNV检测流程在TS标本中检测到79例临床相关CNVs中的78例,分析灵敏度为98.7%,阳性预测值为49.4%。在106个UDS样本中发现了候选的临床相关CNVs。96例患者确诊为CNVs(90.6%)。诊断率为6.8%。分子病因包括非整倍体(n = 7)、微缺失/微复制综合征(n = 40)和孟德尔疾病(n = 49)。

这些发现证明了基于CS-CNV的高产率。随着CS-CNV检测流程的进一步改进,该方法可能具有临床实用性,可用于同时评估CNV以及用于产前或产后分析的样品中的微小变化。

原始出处:

Yu Sun,Xiantao Ye,High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study

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