基于全基因组测序的法医单核苷酸多态性系谱推断研究
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1)中国人民公安大学侦查学院,北京 100038;2)公安部物证鉴定中心,现场物证溯源技术国家工程实验室,北京市现场物证检验工程技术研究中心,北京 100038;3)四川省达州市公安局达川区分局,达州 635000

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Tel: 010-83752706, E-mail: licaixia@tsinghua.org.cnTel: 86-10-83752706, E-mail:licaixia@tsinghua.org.cn

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基金项目:

国家自然科学基金(82171870)和公安部技术研究计划(2021JSZ15)资助项目。


Study of The SNP Investigative Genetic Genealogy Based on Whole Genome Sequencing
Author:
Affiliation:

1)School of Investigation, People’s Public Security University of China, Beijing 100038, China;2)Beijing Engineering Research Center of Crime Scene Evidence Examination, National Engineering Laboratory for Forensic Science, Institute of Forensic Science, Beijing 100038, China;3)Public Security Bureau of Dachuan District of Dazhou City, Dazhou 635000, China

Fund Project:

This work was supported by grants from The National Natural Science Foundation of China (82171870) and the Ministry of Public Security Technology Research Program (2021JSZ15).

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    摘要:

    目的 通过全基因组测序(whole genome sequencing,WGS)获得高密度单核苷酸多态性(single nucleotide polymorphism,SNP)分型数据,评估分型准确性,研究建立WGS数据用于法医SNP系谱推断的方法。方法 通过华大MGISEQ-200RS测序平台对样本进行深度为30×的WGS,从测序数据中提取Wegene GSA芯片中的645 199个常染色体SNP位点,质控过滤后运用IBS/IBD算法计算预测亲缘关系,并对样本的族群来源进行分析。结果 从测序数据中提取的SNP分型与Wegene GSA芯片分型的一致率大于99.62%。测序获得的SNP数据使用IBS算法可预测1~4级亲缘关系,4级亲缘预测置信区间准确性达100%,使用IBD算法可预测1~7级亲缘关系,7级亲缘预测为有亲缘关系的准确性达100%,通过高深度WGS数据获取的SNP系谱推断能力与芯片预测结果无显著差异。同时,WGS数据用于族群推断与调查结果一致。结论 WGS技术可应用于法医SNP系谱推断,为案件侦破提供线索。

    Abstract:

    Objective The high density SNP genotype data were obtained by whole genome sequencing (WGS), the accuracy of genotype was evaluated, and this study is intended to establish the method of using whole genome sequencing data for SNP kinship relationship prediction.Methods The samples were sequenced at a depth of 30× through the MGISEQ-200RS sequencing platform, and 645 199 autosomal SNP in the Wegene GSA DNA microarray were extracted from the sequencing data. After quality control and filtering, the prediction relationship was calculated and predicted by IBS/IBD algorithm, and the ancestry of the samples was analyzed.Results The coincidence rate between SNP genotype extracted from sequencing data and Wegene GSA genotype is more than 99.62%.The SNP genotype obtained by sequencing can predict kinship from level 1 to level 4 by using IBS algorithm, and confidence interval accuracy of level 4 kinship prediction is 100%. Using IBD algorithm, the confidence interval accuracy of level 1 to 7 kinship prediction is 100%. The pedigree inference ability of SNP obtained from high-depth whole genome sequence data is not significantly different from that of DNA microarray prediction.At the same time, the use of whole genome sequencing data for ancestry inference is consistent with the survey results.Conclusion The whole genome resequencing technique can be applied to SNP genealogy inference to provide clues for case detection.

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谢全,桂虚,赵雯婷,方之晓,徐景怡,刘京,李彩霞.基于全基因组测序的法医单核苷酸多态性系谱推断研究[J].生物化学与生物物理进展,2023,50(11):2753-2765

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  • 收稿日期:2022-10-26
  • 最后修改日期:2023-03-01
  • 接受日期:2023-03-01
  • 在线发布日期: 2023-11-22
  • 出版日期: 2023-11-20