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线粒体基因组测序使用ForenSeqTM mtDNA全基因组套件

Jinfeng Xuan¹, Guannan Long², Haiduo Wu²

¹School of Forensic Medicine, China Medical University, Shenyang, Liaoning 110122, PR China.

Forensic science international. Genetics

|March 21, 2025

概括

该ForenSeqTM mtDNA全基因组套件有效地对线粒体基因组 (mtGenomes) 进行测序,用于法医应用. 该套件表现出强大的性能,可从各种样本类型中获得可靠的结果,包括退化DNA.

科学领域:

法医科学法医科学法医科学
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

线粒体DNA (mtDNA) 分析由于其独特的遗传特征,在法医中至关重要.
大规模并行测序 (MPS) 为mtDNA分析提供了先进的功能.

研究的目的:

使用MPS评估ForenSeqTM mtDNA全基因组套件的性能和法医适用性.
评估关键性能指标,包括读取深度,链偏差和mtGenome覆盖范围.
通过敏感性,可重复性和一致性研究,验证该套件在法医科学中的常规使用.

主要方法:

在MiSeq FGx®测序系统上使用ForenSeqTM mtDNA全基因组套件进行mtGenome测序.
连续进行了9次运行,以评估MPS绩效指标.
对敏感性,可重复性,一致性,降解性,抑制性和病例样本进行了内部验证.

主要成果:

实现了精通的运行指标,>80%的读取通过过器,>80%的基数≥Q30,>5000×平均读取深度,>99%的mtGenome覆盖率.
鉴定了五个脆弱的amplicon,由于读取深度低和高链偏差,需要注意.
证明了可重复和可重复的结果,使得从低输入DNA (≥2 pg) 和降解样本中完成mtGenome配置文件.

结论:

ForenSeqTM mtDNA全基因组套件满足了在现实世界中对整个mtGenome测序的法医要求.
该套件为法医科学家提供了宝贵的工具,从多样化和具有挑战性的样本中提供了洞察力.
建议进一步手动检查indels和heteroplasmies,以进行全面的数据分析.

关键词:

在ForenSeqTM mtDNA全基因组套件中.内部验证内部验证大规模并行测序 (MPS) 是一种 MiSeq FGx® 测序系统的测序系统线粒体基因组 (mtGenome) 是指线粒体的

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