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一个整体的方法,以最大限度地提高诊断输出在trio exome测序

Sandra von Hardenberg¹, Hannah Wallaschek¹, Chen Du¹

¹Department of Human Genetics, Hannover Medical School, Hannover, Germany.

Frontiers in pediatrics

|June 5, 2023

概括

三元整体外基因组测序 (WES) 是有效的诊断儿童罕见遗传疾病,产生30%的诊断率. 建议早期实施三WES,包括复制号变异分析,以在重症儿科患者中更快地诊断.

科学领域:

遗传学是一个遗传学.
儿科医学儿科医学
基因组医学是基因组医学.

背景情况:

罕见的遗传疾病是严重的儿童疾病的重要原因.
整体外基因组测序 (WES) 是识别罕见疾病遗传原因的关键工具.
父母测序 (trio WES) 增强了在指数患者中发现的变异的评估.

研究的目的:

为了评估儿科患者常规三 WES 的诊断率.
评估三WES对诊断周转时间的影响.
为了确定WES三组内复制数变异 (CNV) 分析的实用性.

主要方法:

在224名儿科患者中进行了为期三年的例行三位 WES 评估.
包括对副本编号变体的分析,作为三 WES 过程的一部分.
利用GeneMatcher工具识别新的基因疾病关联.

主要成果:

三人WES的诊断收益率达到30% (224名儿童中有67名).
从41天 (2019年) 显著减少到23天 (2021年) 的交付时间.
CNV分析在4.5% (10例) 发现了致病变异;发现了新的基因与疾病的联系.

结论:

Trio WES显示了高诊断产量,并加速了儿科患者的诊断.
在1-3年后,对三组WES数据的重新分析没有产生新的诊断.
建议早期,第一层实施三重WES与CNV检测可疑的单一性疾病,特别是在ICU设置.

关键词:

在CNV中,NV是NV.基因匹配器 (GeneMatcher) 是一个非常有用的工具.诊断的奥德赛诊断的奥德赛重新评估,重新评价.三人称WESWES三人称WES

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