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针对性测序作为一种强大的成本效益的方法来检测罕见变异的DNA池:用于扩张性心肌病遗传诊断的应用

Claire Perret^1,2, Carole Proust¹, Ulrike Esslinger¹

¹Sorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular and Metabolic Diseases, Paris, France.

Clinical genetics

|October 31, 2023

概括

这项研究引入了一种具有成本效益的下一代测序 (NGS) 方法,通过组合DNA样本来诊断扩张性心肌病 (DCM). 这种创新方法准确地检测罕见的遗传变异,大大降低了罕见疾病的诊断成本.

科学领域:

遗传学是一个遗传学.
心脏病学心脏病学
分子生物学分子生物学

背景情况:

扩张性心肌病 (DCM) 是一种具有遗传基础的心脏病.
对DCM的遗传诊断通常涉及识别罕见的,私有致病变体.
目前的基因测试方法,如下一代测序 (NGS),可能会昂贵.

研究的目的:

开发和验证用于DCM遗传诊断的具有成本效益的NGS战略.
评估用于罕见变异检测的聚合DNA测序方法的稳定性.
为了减少DCM患者基因测试的财务负担.

主要方法:

实施了下一代测序 (NGS) 策略,使用每组8名DCM患者的聚合DNA.
使用 Freebayes 软件检测预期 1/16 个等位基因频率的变体.
优化变体质量参数,使用来自96个聚合样本的数据,并根据简单序列测序进行验证.

主要成果:

聚合测序方法在识别单核酸变异 (SNV) 和插入/删除 (InsDels) 方面,与简单测序相比,达到96%的准确性.
在384名DCM患者中检测到100种致病变体 (ACMG类4和5),主要是在已知的DCM相关基因 (TTN,MYH7,FLNC,TNNT2) 中.
在罕见变种检测方面实现了4倍的成本降低.

结论:

一种原始的聚合测序NGS方法可以准确地检测DCM患者的罕见变异.
这种创新方法为罕见疾病的遗传诊断提供了具有成本效益的解决方案.
该方法证明了DCM遗传查的高精度和显著的成本节约.

关键词:

在DNAs-pool中.下一代测序测序是什么心肌病性心脏病 - 心肌病性心脏病基因诊断基因诊断基因诊断

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