Costa Camila, Figueiredo Carolina, Costa Sandra, Ferreira Paulo Miguel, Amorim António, Prieto Lourdes, Pinto Nádia
Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Porto, Portugal.
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Sci Rep. 2025 Jan 20;15(1):2524. doi: 10.1038/s41598-024-83841-2.
Technological advancements have allowed the detection of increasingly complex forensic genetics samples, as minimum amounts of DNA can now be detected in crime scenes or other settings of interest. The weight of the evidence depends on several parameters regarding the population and sample-related analytical factors, the latter in a greater number when the DNA amount is considered. This led to the development of probabilistic genotyping software (PGS), able to deal with the associated complexities. This study aims to evaluate the impact on the evidence's weighing, when different analytical threshold values are used, and when different models and/or estimates for analytical artifacts, such as stutters or drop-in parameters, are considered. To reach this goal, three PGS, based on different statistical models, were used to analyze real casework pairs of samples composed of a mixture with either two or three estimated contributors, and a single-source sample associated. The obtained results show that the estimation of these parameters must not be overlooked, as they may considerably impact the outcome. This underlines the importance of proper parametrization in the analysis of forensic genetics identification problems when using complex samples, and the understanding by practitioners of how probabilistic genotyping informatics tools work to use them accurately.
技术进步使得能够检测出越来越复杂的法医遗传学样本,因为现在在犯罪现场或其他相关场景中能够检测到极少量的DNA。证据的权重取决于几个与群体和样本相关的分析因素参数,当考虑DNA数量时,后者的数量更多。这导致了概率基因分型软件(PGS)的开发,该软件能够处理相关的复杂性。本研究旨在评估当使用不同的分析阈值,以及考虑不同的分析假象模型和/或估计值(如结巴或插入参数)时,对证据权重的影响。为了实现这一目标,使用了基于不同统计模型的三种PGS,来分析实际案件中的样本对,这些样本对由含有两个或三个估计贡献者的混合物以及一个相关的单源样本组成。所得结果表明,这些参数的估计不容忽视,因为它们可能会对结果产生重大影响。这凸显了在使用复杂样本分析法医遗传学鉴定问题时进行适当参数化的重要性,以及从业者了解概率基因分型信息工具如何工作以便准确使用它们的重要性。