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全基因组测序工作流程的开发验证,用于法医实验室的使用

Jennifer C Cihlar¹, August E Woerner¹, Jonathan L King²

¹Center for Human Identification, University of North Texas Health Science Center, 3500 Camp Bowie Blvd, Fort Worth, TX 76107, USA; Department of Microbiology, Immunology, and Genetics, University of North Texas Health Science Center, Fort Worth, TX, USA.

Forensic science international. Genetics

|November 7, 2025

概括

法医遗传谱系 (FGG) 现在使用全基因组测序. 一项新的验证研究详细介绍了使用KAPA HyperPrep和NovaSeq 6000的工作流程,包括Tapir生物信息管道以进行高效分析.

科学领域:

法医科学法医科学法医科学
基因组学就是基因组学.
生物信息学是一种生物信息学.

背景情况:

法医遗传谱系 (FGG) 对于失踪人员和刑事案件的需求正在增加.
目前的方法包括PCR放大,SNV微阵列和全基因组测序 (WGS).
开发强大的生物信息工作流程对于WGS在法医实验室的实施至关重要.

研究的目的:

为法医应用程序执行WGS工作流程的开发验证.
评估图书馆准备和排序在NovaSeq 6000上的表现.
开发和验证一个便携式端到端生物信息管道 (Tapir).

主要方法:

使用KAPA HyperPrep套件进行图书馆准备,并在NovaSeq 6000上进行测序.
验证包括PCR优化,库稳定性和多重复合 (复合性) 研究.
对各种DNA输入进行了敏感性,可重复性,污染和混合分析.

主要成果:

工作流显示了广泛的动态范围和低的检测极限.
塔皮尔管道有效地处理原始测序数据 (BCL),以生成与GEDmatch.com兼容的基因型.
塔皮尔提供样本组成总结,并支持现代归纳和古典基因型定型.

结论:

经过验证的WGS工作流和Tapir管道适用于法医应用.
这些全面的验证数据支持法医实验室采用WGS.
开发的工具有助于整合FGG和案例工作的WGS.

关键词:

发展验证的验证.计入计算是指计入计算的方法.卡帕超级预备 (KAPA HyperPrep) 是一个塔皮尔塔皮尔 (Tapir Tapir) 是一个古老的酒店.整个基因组的测序.

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