巴西联邦警察对EuroForMix的验证:涉及复杂基因图谱的匹配分析

Q1 Social Sciences
Ananda Duarte , Augusto Soares Leite Ribeiro , Marlon Anselmo Duarte da Costa , Renato Teodoro Fereira de Paranaíba , Apoena de Oliveira Lopes , Luiz Guilherme Barros Cocentino , Bruno Rodrigues Trindade , Carlos Eduardo Martinez de Medeiros , Cristina Moniz de Aragão Gualda , Aline Costa Minervino
{"title":"巴西联邦警察对EuroForMix的验证:涉及复杂基因图谱的匹配分析","authors":"Ananda Duarte ,&nbsp;Augusto Soares Leite Ribeiro ,&nbsp;Marlon Anselmo Duarte da Costa ,&nbsp;Renato Teodoro Fereira de Paranaíba ,&nbsp;Apoena de Oliveira Lopes ,&nbsp;Luiz Guilherme Barros Cocentino ,&nbsp;Bruno Rodrigues Trindade ,&nbsp;Carlos Eduardo Martinez de Medeiros ,&nbsp;Cristina Moniz de Aragão Gualda ,&nbsp;Aline Costa Minervino","doi":"10.1016/j.fsisyn.2025.100619","DOIUrl":null,"url":null,"abstract":"<div><div>DNA mixture profiles and single profiles with drop-out originate from complex biological samples, whose interpretation poses challenges such as determining the number of contributors and evaluating the weight of genetic evidence. At the laboratory of the Forensic Genetics Service of the Federal Police (SEPGEF), the analysis of complex genetic profiles is performed using the LRmix Studio™ software, which has been discontinued. Thus, members of the National DNA Database (BNPG) and SEPGEF conducted this study to validate the use of the EuroForMix software in evaluating matches of complex genetic profiles in Federal Police cases. Simulated mixture profiles of two heterozygous individuals in 22 of the 23 autosomal genetic markers examined were analyzed. The mixtures, amplified in triplicate, were made in proportions of 1:1, 1:2, 1:4, and 1:6, with one-third of the samples subjected to degradation by ultraviolet (UV) radiation for 10 min, one-third for 20 min, and one-third without UV degradation. The LRmix Studio™ and EuroForMix were used to quantify the weight of genetic evidence observed in matches with the reference profiles used in the simulated samples. The analysis involved three situations: 1. Evaluation of the likelihood ratio (LR) between a DNA profile with drop-out classified as one contributor compared to a reference profile; 2. Evaluation of the LR between a mixture profile classified as having two contributors compared to a reference profile (major); 3. Evaluation of the LR between a mixture profile classified as having two contributors conditioning on one contributor (minor). Additionally, situations 2 and 3 were assessed in modified forms: the evaluation of the LR between a two-person mixture profile and a reference profile (minor); and the evaluation of the LR for a two-person mixture profile conditioned on the major contributor. Finally, six real cases, previously reported by the laboratory using LRmix Studio™, were analyzed with EuroForMix. The values obtained in both software were compared. The results showed that EuroForMix generally presented higher LR values than LRmix Studio™. Therefore, the EuroForMix software was validated for routine use at SEPGEF in the three situations mentioned.</div></div>","PeriodicalId":36925,"journal":{"name":"Forensic Science International: Synergy","volume":"11 ","pages":"Article 100619"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Validation of the EuroForMix at the Brazilian Federal Police: Analysis of matches involving complex genetic profiles\",\"authors\":\"Ananda Duarte ,&nbsp;Augusto Soares Leite Ribeiro ,&nbsp;Marlon Anselmo Duarte da Costa ,&nbsp;Renato Teodoro Fereira de Paranaíba ,&nbsp;Apoena de Oliveira Lopes ,&nbsp;Luiz Guilherme Barros Cocentino ,&nbsp;Bruno Rodrigues Trindade ,&nbsp;Carlos Eduardo Martinez de Medeiros ,&nbsp;Cristina Moniz de Aragão Gualda ,&nbsp;Aline Costa Minervino\",\"doi\":\"10.1016/j.fsisyn.2025.100619\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>DNA mixture profiles and single profiles with drop-out originate from complex biological samples, whose interpretation poses challenges such as determining the number of contributors and evaluating the weight of genetic evidence. At the laboratory of the Forensic Genetics Service of the Federal Police (SEPGEF), the analysis of complex genetic profiles is performed using the LRmix Studio™ software, which has been discontinued. Thus, members of the National DNA Database (BNPG) and SEPGEF conducted this study to validate the use of the EuroForMix software in evaluating matches of complex genetic profiles in Federal Police cases. Simulated mixture profiles of two heterozygous individuals in 22 of the 23 autosomal genetic markers examined were analyzed. The mixtures, amplified in triplicate, were made in proportions of 1:1, 1:2, 1:4, and 1:6, with one-third of the samples subjected to degradation by ultraviolet (UV) radiation for 10 min, one-third for 20 min, and one-third without UV degradation. The LRmix Studio™ and EuroForMix were used to quantify the weight of genetic evidence observed in matches with the reference profiles used in the simulated samples. The analysis involved three situations: 1. Evaluation of the likelihood ratio (LR) between a DNA profile with drop-out classified as one contributor compared to a reference profile; 2. Evaluation of the LR between a mixture profile classified as having two contributors compared to a reference profile (major); 3. Evaluation of the LR between a mixture profile classified as having two contributors conditioning on one contributor (minor). Additionally, situations 2 and 3 were assessed in modified forms: the evaluation of the LR between a two-person mixture profile and a reference profile (minor); and the evaluation of the LR for a two-person mixture profile conditioned on the major contributor. Finally, six real cases, previously reported by the laboratory using LRmix Studio™, were analyzed with EuroForMix. The values obtained in both software were compared. The results showed that EuroForMix generally presented higher LR values than LRmix Studio™. Therefore, the EuroForMix software was validated for routine use at SEPGEF in the three situations mentioned.</div></div>\",\"PeriodicalId\":36925,\"journal\":{\"name\":\"Forensic Science International: Synergy\",\"volume\":\"11 \",\"pages\":\"Article 100619\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-07-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Forensic Science International: Synergy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2589871X25000488\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"Social Sciences\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Forensic Science International: Synergy","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2589871X25000488","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"Social Sciences","Score":null,"Total":0}
引用次数: 0

摘要

DNA混合图谱和有缺失的单一图谱来自复杂的生物样本,其解释带来了诸如确定贡献者数量和评估遗传证据权重等挑战。在联邦警察法医遗传学服务(SEPGEF)实验室,使用LRmix Studio™软件对复杂的基因图谱进行分析,该软件已停产。因此,国家DNA数据库(BNPG)和SEPGEF的成员进行了这项研究,以验证EuroForMix软件在联邦警察案件中评估复杂基因图谱匹配的使用。分析了23个常染色体遗传标记中的22个中两个杂合个体的模拟混合谱。将混合物放大三份,按1:1、1:2、1:4和1:6的比例配制,其中三分之一的样品接受紫外线(UV)辐射降解10分钟,三分之一接受20分钟,三分之一不进行紫外线降解。使用LRmix Studio™和EuroForMix来量化与模拟样品中使用的参考谱相匹配的遗传证据的权重。分析涉及三种情况:1。与参考DNA谱相比,将辍学分类为一个贡献者的DNA谱之间的似然比(LR)进行评估;2. 与参考剖面(主要)相比,评估具有两个贡献者的混合剖面之间的LR;3. 对被分类为具有两个贡献者的混合剖面之间的LR进行评估,以一个贡献者为条件(次要)。此外,对情况2和3进行了修改形式的评估:评估两人混合剖面和参考剖面(次要)之间的LR;以及以主要贡献者为条件的双人混合轮廓的LR评估。最后,使用EuroForMix分析之前由实验室使用LRmix Studio™报告的6例真实病例。比较两种软件的结果。结果表明,EuroForMix的LR值普遍高于LRmix Studio™。因此,在上述三种情况下,EuroForMix软件在SEPGEF上进行了常规使用验证。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Validation of the EuroForMix at the Brazilian Federal Police: Analysis of matches involving complex genetic profiles
DNA mixture profiles and single profiles with drop-out originate from complex biological samples, whose interpretation poses challenges such as determining the number of contributors and evaluating the weight of genetic evidence. At the laboratory of the Forensic Genetics Service of the Federal Police (SEPGEF), the analysis of complex genetic profiles is performed using the LRmix Studio™ software, which has been discontinued. Thus, members of the National DNA Database (BNPG) and SEPGEF conducted this study to validate the use of the EuroForMix software in evaluating matches of complex genetic profiles in Federal Police cases. Simulated mixture profiles of two heterozygous individuals in 22 of the 23 autosomal genetic markers examined were analyzed. The mixtures, amplified in triplicate, were made in proportions of 1:1, 1:2, 1:4, and 1:6, with one-third of the samples subjected to degradation by ultraviolet (UV) radiation for 10 min, one-third for 20 min, and one-third without UV degradation. The LRmix Studio™ and EuroForMix were used to quantify the weight of genetic evidence observed in matches with the reference profiles used in the simulated samples. The analysis involved three situations: 1. Evaluation of the likelihood ratio (LR) between a DNA profile with drop-out classified as one contributor compared to a reference profile; 2. Evaluation of the LR between a mixture profile classified as having two contributors compared to a reference profile (major); 3. Evaluation of the LR between a mixture profile classified as having two contributors conditioning on one contributor (minor). Additionally, situations 2 and 3 were assessed in modified forms: the evaluation of the LR between a two-person mixture profile and a reference profile (minor); and the evaluation of the LR for a two-person mixture profile conditioned on the major contributor. Finally, six real cases, previously reported by the laboratory using LRmix Studio™, were analyzed with EuroForMix. The values obtained in both software were compared. The results showed that EuroForMix generally presented higher LR values than LRmix Studio™. Therefore, the EuroForMix software was validated for routine use at SEPGEF in the three situations mentioned.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
4.90
自引率
0.00%
发文量
75
审稿时长
90 days
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信