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一种基于家系计算Y染色体短串联重复序列(Y-STR)匹配概率的新型数学框架。

A novel mathematical framework for pedigree-based calculation of Y-STR match probabilities.

作者信息

Caliebe Amke, Zandstra Dion, Ralf Arwin, Kayser Manfred, Krawczak Michael

机构信息

Institute of Medical Informatics and Statistics, Kiel University, University Hospital Schleswig-Holstein, Brunswiker Straße 10, 24105, Kiel, Germany.

Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.

出版信息

Sci Rep. 2025 Apr 26;15(1):14651. doi: 10.1038/s41598-025-98644-2.

Abstract

Y-chromosomal short tandem repeat (Y-STR) markers are routinely used in forensic casework to identify male donors of biological traces left at crime scenes, particularly in sexual assault cases. However, the evidential value of a match between the Y-STR profile of a trace and a potential donor, usually a crime suspect, is difficult to quantify, and the common albeit inappropriate practise to equate Y-STR match probabilities with Y-STR profile frequencies estimated from population databases has been subject to scientific debate for decades. As a solution to this long-standing problem, we suggest an alternative approach to the calculation of Y-STR match probabilities that involves splitting the group of potential donors other than the suspect into two: (i) his close male relatives (termed his 'pedigree') and (ii) all other males. While an upper limit to the match probability is easily calculated for the second group, it is computationally challenging to derive for the first. We therefore developed a mathematical framework that uses importance sampling to reconstruct and evaluate the Y-STR profiles of untyped members of the suspect's pedigree by way of simulation. Extensive testing with elementary pedigrees of different structure and complexity confirmed that both, the framework and its Python-based software implementation yield match probability estimates that approximate well the correct analytical results, depending upon the number of simulations performed. Our methodology thus facilitates a more appropriate and valid solution to the long-standing problem of interpreting Y-STR profile matches in forensic casework.

摘要

Y染色体短串联重复序列(Y-STR)标记在法医案件处理中经常被用于识别留在犯罪现场的生物痕迹的男性提供者,特别是在性侵犯案件中。然而,痕迹的Y-STR图谱与潜在提供者(通常是犯罪嫌疑人)之间匹配的证据价值难以量化,并且将Y-STR匹配概率等同于从人群数据库估计的Y-STR图谱频率这种常见但不恰当的做法已经受到了数十年的科学争论。作为解决这个长期存在问题的一种方法,我们提出了一种计算Y-STR匹配概率的替代方法,该方法涉及将嫌疑人以外的潜在提供者群体分为两类:(i)他的近亲男性亲属(称为他的“谱系”)和(ii)所有其他男性。虽然很容易计算出第二类群体匹配概率的上限,但对于第一类群体来说,推导其匹配概率在计算上具有挑战性。因此,我们开发了一个数学框架,该框架使用重要性抽样通过模拟来重建和评估嫌疑人谱系中未分型成员的Y-STR图谱。对不同结构和复杂性的基本谱系进行的广泛测试证实,根据所执行的模拟次数,该框架及其基于Python的软件实现所产生的匹配概率估计值都能很好地近似正确的分析结果。因此,我们的方法有助于为法医案件处理中解释Y-STR图谱匹配这一长期存在的问题提供更合适、有效的解决方案。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb4b/12033265/61d34d1b1118/41598_2025_98644_Fig1_HTML.jpg

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