Statistical analysis tools of mixture DNA samples: When the same software provides different results

Camila Costa , Carolina Figueiredo , António Amorim , Lourdes Prieto , Sandra Costa , Paulo Miguel Ferreira , Nádia Pinto
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Abstract

The high complexity of the genetic analysis of crime scene samples is mainly related to the unknown number of contributors, low DNA quantity and quality, and associated stochastic effects. The difficulty and subjectivity of interpreting casework samples was the motto for the development of software to mitigate these conditions and allow the quantification of the genetic evidence. Currently, there are several tools for statistical analysis of mixture samples based on either qualitative or quantitative models. The first considers the electropherograms’ qualitative information, while the latter also considers the associated quantitative information. This work’s main goal was to evaluate the effect that parameters’ settings variation may have on the LR computation, specifically the drop-in frequency parameter. For that, a qualitative – LRmix Studio – and two quantitative software – STRmix™ and EuroForMix – were considered and an intra-software analysis was performed, using as input real casework samples. The drop-in frequency variation showed an impact, leading to differences higher than four units (log10 scale) for some pairs of samples. In addition, for some cases, no comparisons were performed either because the tool computed a null LR value or displayed an error message. Thus, this work reinforces the importance of proper parameters’ modeling and estimation in forensic casework evaluation.

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混合DNA样本的统计分析工具:当相同的软件提供不同的结果
犯罪现场样本遗传分析的高复杂性主要与贡献者数量未知、DNA数量和质量低以及相关的随机效应有关。解释个案工作样本的困难和主观性是开发软件的座右铭,以缓解这些情况,并允许量化遗传证据。目前,有几种基于定性或定量模型的混合物样本统计分析工具。第一种考虑电泳图的定性信息,而后者也考虑相关的定量信息。这项工作的主要目标是评估参数设置的变化可能对LR计算产生的影响,特别是频率参数的下降。为此,一个定性的LRmix Studio和两个定量的软件STRmix™ 和EuroForMix,并使用实际案例样本作为输入进行软件内分析。频率变化的下降显示出影响,导致某些样本对的差异超过四个单位(log10标度)。此外,在某些情况下,由于工具计算的LR值为空或显示错误消息,因此没有进行比较。因此,这项工作加强了适当参数的建模和估计在法医案件评估中的重要性。
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来源期刊
Forensic Science International: Genetics Supplement Series
Forensic Science International: Genetics Supplement Series Medicine-Pathology and Forensic Medicine
CiteScore
0.40
自引率
0.00%
发文量
122
审稿时长
25 days
期刊介绍: The Journal of Forensic Science International Genetics Supplement Series is the perfect publication vehicle for the proceedings of a scientific symposium, commissioned thematic issues, or for disseminating a selection of invited articles. The Forensic Science International Genetics Supplement Series is part of a duo of publications on forensic genetics, published by Elsevier on behalf of the International Society for Forensic Genetics.
期刊最新文献
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