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使用Tapir对全基因组测序数据的生物信息处理

August E Woerner¹, Briana N Stowe², 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, USA.

Forensic science international. Genetics

|November 15, 2025

概括

全基因组测序 (WGS) 提供了法医潜力,但需要标准化的管道. 塔皮尔 (Tapir) 是一种新的工作流程,可用于法医遗传基因型定型和报告,实现可重复的WGS分析.

科学领域:

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

背景情况:

全基因组测序 (WGS) 对法医调查具有重大潜力.
WGS数据的复杂性和规模对其常规的法医应用提出了挑战.
标准化分析管道对于可靠和可复制的法医基因型定型至关重要.

研究的目的:

介绍Tapir,一种可重复的端到端工作流程,用于法医全基因组测序数据分析.
为了从原始WGS数据中生成GEDmatch兼容的基因型化结果.
提供法医相关的总结和推断统计数据.

主要方法:

塔皮尔摄入原始的WGS数据 (Illumina BCL格式).
它集成了现有的和定制的工具,包括用于概率基因型的GLIMPSE和BCF工具.
工作流程被包装在一个虚拟机中,以便在商品硬件上访问.

主要成果:

塔皮尔产生了一个与GEDmatch兼容的标准化基因型化结果.
它结合了先进的概率基因型算法 (GLIMPSE,BCFtools).
该管道提供关键的法医统计数据,如覆盖范围和混合物估计.

结论:

塔皮尔解决了法医科学中标准化WGS分析的需求.
它通过可重复的工作流来增强WGS数据对调查报告的实用性.
塔皮尔的可访问性促进了WGS在法医案例工作中的采用.

关键词:

生物信息学是一种生物信息学.法医学遗传谱系学法医学遗传谱系学法医调查遗传谱系研究单个核酸的多态性.单个核酸变体的变体整个基因组的测序.

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