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在NGS STR数据中的测序诱导的文物

Yao-Yuan Liu¹, Kevin Cheng¹, Rebecca Just²

¹ESR Limited, Private Bag 92021, Auckland, New Zealand.

Forensic science international. Genetics

|June 19, 2024

概括

下一代测序 (NGS) 中的噪音尖峰可以创建模仿真实DNA等位基因的工件. 本研究在MiSeq FGx数据中识别了这些"噪音尖峰器件",并介绍了它们与真实STR序列的检测和区分的方法.

科学领域:

法医科学法医科学法医科学
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

下一代测序 (NGS) 提供了法医短并列重复 (STR) 分析的进步.
在MiSeq FGx数据中的高读数噪声序列在区分真正的等位基因方面存在挑战.
这些噪声序列往往以已知等位基的单基替代形式呈现.

研究的目的:

调查在MiSeq FGx DNA 档案中观察到的高读数噪声序列的起源和特征.
为了识别和描述特定的文物,称为"噪音尖峰文物",在测序过程中产生.
开发检测和区分这些文物与真实的STR等位基因的方法.

主要方法:

使用MiSeq FGx测序系统和ForenSeq DNA签名准备套件生成的DNA配置文件的分析.
检查特征基替代和它们的位置的噪声序列.
对噪声事件进行映射,以在序列运行中识别"噪声峰值".
在测序-通过-合成 (SBS) 循环中研究噪音尖峰的起源.

主要成果:

高读数噪声序列往往来自于在片内的特定"噪声尖峰"位置的基位替换.
这些噪音尖峰发生在跑道内的一致位置,但在不同跑道的位置和振幅上有所不同.
大多数有问题的噪音序列被归类为来自这些特定位置的"噪音尖峰工件".

结论:

在MiSeq FGx STR分析中,噪音尖峰器件是一个重大挑战.
了解SBS周期期间这些文物的起源对于准确的解释至关重要.
使用MiSeq FGx数据的法医实验室对于检测和区分噪声尖峰器件的方法至关重要.

关键词:

法医遗传学法医遗传学在 MiSeq FGx 中使用.噪音尖峰是因为噪音尖峰.质量评分的质量分数.这是STRs.对文物进行测序.

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