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使用KAPA HyperChoice系统对单个NGS向面板管道进行临床验证,以检测生殖系,体和线粒体序列以及副本数变异

Jennifer Kerkhof¹, Cassandra Rastin¹, Laila Schenkel^1,2

¹Molecular Genetics Laboratory, Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.

Expert review of molecular diagnostics

|August 5, 2023

概括

这项研究验证了下一代测序 (NGS) 管道,实现了在各种组织中检测基因变异的高精度. 优化的NGS方法降低了分子诊断的成本和周转时间.

科学领域:

基因组学就是基因组学.
分子诊断学分子诊断
生物信息学是一种生物信息学.

背景情况:

下一代测序 (NGS) 管道对于分子诊断至关重要.
管道性能是通过数据质量,成本,周转时间和变异检测准确度来评估的.
精确检测序列和副本数变异对于临床应用至关重要.

研究的目的:

在临床上验证KAPA HyperChoice对NGS面板的目标丰富系统.
通过并行基因定型来评估各种组织类型的样本忠实性.
评估分子诊断对成本和周转时间的影响.

主要方法:

验证了285个复杂变异的临床病例 (205个追溯,80个前).
评估了外周血液,尿液,肌肉和FFPE组织.
使用NGS面板进行并行样本真实性评估.

主要成果:

实现了高质量,统一的数据,目标面板覆盖率为100%.
在大多数面板和组织中对所有变异类型表现出完全的敏感性和特异性.
通过并行基因定型,降低了总体成本和周转时间.

结论:

经过验证的NGS管道,包括核和线粒体基因组,在临床环境中很有用.
该系统有效地评估来自复杂遗传疾病的各种转诊原因.
实施导致分子诊断的成本和周转时间大幅降低.

关键词:

临床诊断临床诊断临床诊断生殖线和线粒体NGS.生殖线和体质NGS的生殖线和体质NGS.样本忠诚度样本忠诚度样本忠诚度序列和副本编号的变体.

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