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混合物解卷与大规模并行测序数据:微哈普洛型与短串联重复相比

Monica Giuffrida¹, Pedro Rodrigues¹, Zehra Köksal¹

¹Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark.

|September 27, 2025

概括

微型 (MHs) 在解复杂的法医DNA混合物方面表现优于短串重复 (STRs). 这种使用MPSproto软件的新工作流程为犯罪现场样本解释提供了更准确的结果.

科学领域:

法医遗传学法医遗传学
基因组分析基因组分析
解释DNA混合物的解释

背景情况:

在法医遗传学中,解读犯罪现场DNA混合物至关重要.
开发了一种新的工作流程,用于解构微哈普罗类型 (MHs) 和短串联重复 (STRs).

研究的目的:

开发和评估使用MPSproto v0.9.7.7.0 的混合物解卷工作流.
为了比较MHS和STR在分析复杂DNA混合物的性能.

主要方法:

利用来自74个复数MH面板和26个复数STR商用套件的测序数据.
创建模拟混合物 (2人和3人) 并分析真实混合物样本.
使用MPSproto v0.9.7软件进行概率基因型和解卷.

主要成果:

与STR配置文件相比,MH配置文件产生了更完整的解卷,与更少的错误基因型调用相比,STR配置文件产生了更完整的解卷.
贡献者比例估计对MHs比STRs更准确,特别是在具有挑战性的混合方案中.
MHs在模拟和真实法医DNA混合物中表现出卓越的性能.

结论:

微型 (MHs) 为法医DNA混合分析提供了比STR更高的准确性和完整性.
开发的MPSproto工作流有效地解构复杂的混合物,改善了法医遗传学解释.
MHs代表了法医科学的有希望的进步,特别是在具有挑战性的混合案例中.

关键词:

在MPSproto中使用MPSproto.法医遗传学法医遗传学微型型是指微型型.这是下一代测序.可能性基因型软件的概率基因型软件.短串联重复重复的重复

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