重新分析DNA混合物:对EuroForMix的反卷积和证据权计算的评价。

IF 1.4 4区 医学 Q2 MEDICINE, LEGAL
Aline Costa Minervino, Cristina Moniz de Aragão Gualda, Bruno Rodrigues Trindade, Carlos Eduardo Martinez de Medeiros, Ronaldo Carneiro da Silva Júnior
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引用次数: 0

摘要

法医遗传学在不断发展的DNA混合分析领域面临着重大挑战。本文强调了与退化或低数量样本中的随机效应和伪影相关的复杂性,并探讨了DNA混合分析的主要目标,即反卷积和证据权重量化。该研究考察了软件工具EuroForMix (EFM)在解释复杂混合物中的功效。利用EFM v.3.4.0重新分析了巴西国家犯罪学研究所DNA法医实验室在2022年处理的两起法医案件的基因图谱,重点是反卷积DNA混合物并量化证据的权重。结果比较了先前使用实验室验证的电子表格、LRmix Studio(用于计算LR)和GeneMapperTM ID-X(用于反卷积混合物)进行的分析。EFM在反褶积和证据权重量化方面都表现出高效率,与之前的分析相比,各种剖面的LR值都有所提高。在重新分析的案例中,使用EFM计算的证据权重值与使用实验室验证的电子表格获得的值相当,并且与LRmix Studio相比,LR值更高。使用EFM和GeneMapperTM ID-X进行反卷积谱的比较显示,主要基因型的结果基本一致,EFM在大多数谱中产生相同或更好的结果。因此,EFM显示了作为DNA混合物分析工具的潜力,包括LR计算和反褶积。尽管这些令人鼓舞的结果,建议每个法医实验室制定考虑内部验证的DNA混合解释协议。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Reanalyzing DNA mixture: a evaluation of EuroForMix for deconvolution and weight-of-evidence computing.

Forensic genetics faces significant challenges in the evolving landscape of DNA mixture analysis. This paper highlights the complexities associated with stochastic effects and artifacts in degraded or low-quantity samples and explores the primary objectives of DNA mixture analysis, namely deconvolution and weight of evidence quantification. The study examines the efficacy of the software tool EuroForMix (EFM) in interpreting complex mixtures. Genetic profiles from two forensic cases processed in 2022 by the Brazilian National Institute of Criminalistics' DNA Forensic Laboratory were reanalyzed using EFM v.3.4.0, focusing on deconvoluting DNA mixtures and quantifying the weight of evidence. Results were compared with previous analyses conducted using a laboratory-validated spreadsheet, LRmix Studio (for computing LR), and GeneMapperTM ID-X (for deconvoluting mixtures). EFM demonstrated high efficiency in both deconvolution and weight-of-evidence quantification, showing improved LR values for various profiles compared to previous analyses. In the reanalyzed cases, weight of evidence calculations using EFM produced values comparable to those obtained with the laboratory-validated spreadsheet and superior LR values compared to LRmix Studio. The comparison of deconvoluted profiles using EFM and GeneMapperTM ID-X revealed mostly consistent results for the major contributor genotype, with EFM yielding equal or better outcomes in most profiles. Thus, EFM shows potential as a tool for DNA mixture analysis, including both LR computation and deconvolution. Despite these encouraging results, it is recommended that each forensic laboratory develop DNA mixture interpretation protocols that consider internal validation.

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来源期刊
Forensic Science, Medicine and Pathology
Forensic Science, Medicine and Pathology MEDICINE, LEGAL-PATHOLOGY
CiteScore
3.90
自引率
5.60%
发文量
114
审稿时长
6-12 weeks
期刊介绍: Forensic Science, Medicine and Pathology encompasses all aspects of modern day forensics, equally applying to children or adults, either living or the deceased. This includes forensic science, medicine, nursing, and pathology, as well as toxicology, human identification, mass disasters/mass war graves, profiling, imaging, policing, wound assessment, sexual assault, anthropology, archeology, forensic search, entomology, botany, biology, veterinary pathology, and DNA. Forensic Science, Medicine, and Pathology presents a balance of forensic research and reviews from around the world to reflect modern advances through peer-reviewed papers, short communications, meeting proceedings and case reports.
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