使用ForenSeqTMTMDNA签名准备包和多种预测工具进行生物地理祖先分析
Nina Mjølsnes Salvo1, Gunn-Hege Olsen1, Thomas Berg1
1Centre for Forensic Genetics, Department of Medical Biology, Faculty of Health Sciences, UiT The Arctic University of Norway, Post Box 6050, 9037 Tromsø, Norway.
Genes
|April 27, 2024
概括
使用56个祖先信息SNP的生物地理祖先 (BGA) 推断有助于调查. 与非欧洲人的UAS不同,FROG-kb和GenoGeographer工具对欧洲人和非欧洲人显示出高准确度.
科学领域:
- 法医遗传学 法医遗传学
- 人口遗传学 人口遗传学
- 人类识别 人类识别
背景情况:
- 生物地理祖先 (BGA) 的推断对于法医调查至关重要,包括识别失踪人员和受害者.
- 在BGA分析中使用ForenSeqTM DNA签名准备套件和MiSeq FGx系统.
- 评估不同BGA预测工具的性能对于案例准确性至关重要.
研究的目的:
- 通过使用ForenSeqTM DNA签名准备套件评估56个祖先信息型SNP的打字性能.
- 为了比较通用分析软件 (UAS),FROG-kb和GenoGeographer用于BGA预测的准确性.
- 为了确定可靠的BGA推断的最佳DNA输入量.
主要方法:
- 分析了177个样本,使用56个祖先信息型SNP与MiSeq FGx系统上的ForenSeqTMDNA签名准备工具包进行分析.
- 通过使用不同样本群体,在三个软件工具 (UAS,FROG-kb,GenoGeographer) 中比较BGA预测准确度.
- 评估DNA输入量对SNP类型和BGA配置文件完整性的影响.
主要成果:
- 该ForenSeqTM套件表现出高灵敏度,产生完整的SNP配置文件,低至250pg的DNA输入.
- 对于欧洲 (99.6%,91.8%) 和非欧洲 (95.4%,90.9%) 的样本,FROG-kb和GenoGeographer实现了高准确率.
- 通用分析软件 (UAS) 对欧洲人来说准确度高 (96.0%),但对非欧洲人来说准确度明显低 (40.9%).
- 没有经过测试的工具能够准确地预测具有共同祖先的个体.
结论:
- 虽然ForenSeqTM套件是敏感的,但建议至少输入1ng的DNA,以避免读取深度低和SNP脱落.
- FROG-kb和GenoGeographer是法医病例研究中BGA推断的可靠工具,特别是在多样化的群体中.
- 采用多个BGA预测工具可以提高法医科学中生物地理祖先估计的整体准确性和可靠性.
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