法医SNP基因谱推断使用不同深度的全基因组测序数据
Quan Xie1, Wenting Zhao2, Wenhai Liu3
1Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, National Engineering Laboratory for Forensic Science, Institute of Forensic Science, Beijing 100038, China; Criminal Investigation Branch, Zhuzhou Municipal Public Security Bureau, Zhuzhou, Hunan 412000, China.
Forensic science international. Genetics
|June 3, 2025
概括
全基因组测序 (WGS) 准确地推断出基因谱和生物地理起源,使用单核酸多态 (SNP) 数据. 高级测序深度 (8x及以上) 对于法医家谱是可靠的,尽管较低的深度需要进一步优化.
科学领域:
- 基因组学就是基因组学.
- 法医科学 法医科学 法医科学
- 人口遗传学 人口遗传学
背景情况:
- 全基因组测序 (WGS) 产生高密度单核酸多态 (SNP) 数据,对遗传分析至关重要.
- 法医遗传学依赖于准确的SNP基因型和亲属关系分析.
- 评估测序深度对WGS数据质量的影响对于可靠的推断至关重要.
研究的目的:
- 评估从各种测序深度的WGS数据中SNP基因型鉴定的准确性.
- 利用WGS数据探索法医家谱推断的方法.
- 为了确定最优的测序深度,准确的法医家谱和生物地理起源分析.
主要方法:
- 样本的全基因组测序 (WGS) 在自体深度为30×,14×,8×和4×.
- 提取了645,199个自体SNP位点,可与SNP芯片板进行比较.
- 根据血统身份 (IBD) 算法的应用,用于亲属关系计算和生物地理起源分析.
主要成果:
- 在WGS和SNP芯片数据之间,SNP基因型的一致性超过了96%.
- 该IBD算法准确地预测了从第1到第7度的亲属关系,使用8×,14×和30×深度的WGS数据.
- 使用WGS数据 (8×,14×,30×) 的谱系推断准确度与SNP芯片数据相比,生物地理推断与调查结果保持一致.
结论:
- WGS数据提供了准确的SNP基因型定型和可靠的法医学家谱推断,测序深度为8×及以上.
- 需要进一步改进质量控制和算法,以使用低深度 (4×) WGS数据进行准确的家谱推断.
- 基于WGS的SNP分析是法医家谱和生物地理起源确定的一种可行的工具.
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