Aline Costa Minervino, Cristina Moniz de Aragão Gualda, Bruno Rodrigues Trindade, Carlos Eduardo Martinez de Medeiros, Ronaldo Carneiro da Silva Júnior
{"title":"重新分析DNA混合物:对EuroForMix的反卷积和证据权计算的评价。","authors":"Aline Costa Minervino, Cristina Moniz de Aragão Gualda, Bruno Rodrigues Trindade, Carlos Eduardo Martinez de Medeiros, Ronaldo Carneiro da Silva Júnior","doi":"10.1007/s12024-024-00872-x","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12449,"journal":{"name":"Forensic Science, Medicine and Pathology","volume":" ","pages":""},"PeriodicalIF":1.4000,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Reanalyzing DNA mixture: a evaluation of EuroForMix for deconvolution and weight-of-evidence computing.\",\"authors\":\"Aline Costa Minervino, Cristina Moniz de Aragão Gualda, Bruno Rodrigues Trindade, Carlos Eduardo Martinez de Medeiros, Ronaldo Carneiro da Silva Júnior\",\"doi\":\"10.1007/s12024-024-00872-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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. 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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.
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.