Resolving kinship degrees with identity-by-descent coefficients: Limits and insights from a simulation study

IF 2.5 3区 医学 Q1 MEDICINE, LEGAL
Haoyu Wang, Yifan Wei, Tiantian Shan, Chun Yang, Yuntao Cai, Yuhan Hu, Qiang Zhu, Ji Zhang
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引用次数: 0

Abstract

Kinship analysis in forensic genetics often requires precise determination of relatedness degrees rather than existence of kinship. While identity-by-descent (IBD) coefficients are widely used, their discriminatory power for distinguishing relatedness degrees under a likelihood ratio (LR) framework remains inadequately characterized, particularly for distant relatives. In this study, we developed a maximum LR approach with dynamic thresholds to evaluate IBD-based kinship discrimination. LRkin calculations were tested using competing hypotheses (H0: relationship i vs. H1: relationship j, i ≠ j). System performance was assessed across seven virtual panels: five STR panels (21–500 loci) and two SNP panels (6445–16,109 loci), simulating panels with different effectiveness. The results showed that the LRkin-based maximum LR method effectively differentiated closer relationships, such as parent-offspring, full-sibling, and second-degree relatives. However, the LRkin struggled to distinguish more distant relationships, even using up to 500 STRs or 16,109 SNPs. In conclusion, although calculating LRkin does not improve inference accuracy, it can help reduce the risk of errors in inferring relationships. Using more genetic markers can enhance inference accuracy; However, the IBD-coefficients based LR had limitations in distinguishing between different degrees of relationships.
用血统识别系数求解亲缘度:来自模拟研究的限制和见解
法医遗传学中的亲属分析往往需要精确地确定亲缘程度,而不是亲属是否存在。虽然血统识别(IBD)系数被广泛使用,但它们在似然比(LR)框架下区分亲缘程度的区别能力仍然没有得到充分的表征,特别是对于远亲而言。在这项研究中,我们开发了一种带有动态阈值的最大LR方法来评估基于ibd的亲属歧视。LRkin计算使用竞争假设进行检验(H0:关系i vs. H1:关系j, i ≠ j)。系统性能通过七个虚拟面板进行评估:五个STR面板(21-500个位点)和两个SNP面板(6445-16,109个位点),模拟面板具有不同的有效性。结果表明,基于lrkin的最大LR方法能有效区分亲代、全同胞和二度亲属等亲缘关系。然而,LRkin很难区分更遥远的关系,甚至使用了多达500个str或16,109个snp。综上所述,尽管计算LRkin并不能提高推理的准确性,但它可以帮助降低推理关系中的错误风险。使用更多的遗传标记可以提高推理的准确性;然而,基于ibd系数的LR在区分不同程度的关系方面存在局限性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Forensic science international
Forensic science international 医学-医学:法
CiteScore
5.00
自引率
9.10%
发文量
285
审稿时长
49 days
期刊介绍: Forensic Science International is the flagship journal in the prestigious Forensic Science International family, publishing the most innovative, cutting-edge, and influential contributions across the forensic sciences. Fields include: forensic pathology and histochemistry, chemistry, biochemistry and toxicology, biology, serology, odontology, psychiatry, anthropology, digital forensics, the physical sciences, firearms, and document examination, as well as investigations of value to public health in its broadest sense, and the important marginal area where science and medicine interact with the law. The journal publishes: Case Reports Commentaries Letters to the Editor Original Research Papers (Regular Papers) Rapid Communications Review Articles Technical Notes.
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