Forensic Science International-Genetics最新文献

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Methylation-based forensic age estimation on different biogeographic backgrounds: A study on Central Europeans, East Asians and West Africans 不同生物地理背景下基于甲基化的法医年龄估计:中欧、东亚和西非的研究。
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2025-12-01 DOI: 10.1016/j.fsigen.2025.103397
Charlotte Sutter , Ruiyang Tao , Shouyu Wang , Yaw Agyekum Boaitey , Alex Owusu-Ofori , Cordula Haas , Jacqueline Neubauer
{"title":"Methylation-based forensic age estimation on different biogeographic backgrounds: A study on Central Europeans, East Asians and West Africans","authors":"Charlotte Sutter ,&nbsp;Ruiyang Tao ,&nbsp;Shouyu Wang ,&nbsp;Yaw Agyekum Boaitey ,&nbsp;Alex Owusu-Ofori ,&nbsp;Cordula Haas ,&nbsp;Jacqueline Neubauer","doi":"10.1016/j.fsigen.2025.103397","DOIUrl":"10.1016/j.fsigen.2025.103397","url":null,"abstract":"<div><div>In recent years, the estimation of the age of a stain donor through DNA methylation has received much attention in the forensic genetics community. It can provide investigative leads for law enforcement when no DNA profile match could be obtained from a crime scene stain. It has been shown that different human populations can have systematically different methylation profiles. This raises the question whether the age of individuals from different biogeographic backgrounds is estimated with different accuracies using forensic age estimation tools.</div><div>In our study, we investigated 30 individuals each from Central Europe, East Asia and West Africa. All individuals donated blood, saliva and buccal cell samples and each sample was analyzed with two forensic age estimation tools (VISAGE enhanced tool and Jung et al. SNaPshot tool).</div><div>Our study showed that there were no statistically significant differences in age estimation accuracy between the three investigated populations regardless of the body fluid or age estimation tool used. The only exception was in the saliva samples, which showed statistically significant differences in age estimation errors with the VISAGE enhanced tool when comparing the East Asian and West African groups. Including knowledge about the biogeographic origin of a stain donor might therefore not be as important as previously assumed.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103397"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145746157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Forensic geolocation of Norwegian soil samples using random forest analysis of microbiomes 利用随机森林微生物组分析对挪威土壤样本进行法医地理定位
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2025-11-28 DOI: 10.1016/j.fsigen.2025.103408
Aurora Hofsvang , Eirik Natås Hanssen , Eric Jacques de Muinck , Pål Trosvik , Ane Elida Fonneløp
{"title":"Forensic geolocation of Norwegian soil samples using random forest analysis of microbiomes","authors":"Aurora Hofsvang ,&nbsp;Eirik Natås Hanssen ,&nbsp;Eric Jacques de Muinck ,&nbsp;Pål Trosvik ,&nbsp;Ane Elida Fonneløp","doi":"10.1016/j.fsigen.2025.103408","DOIUrl":"10.1016/j.fsigen.2025.103408","url":null,"abstract":"<div><div>Soil is a substrate easily picked up during everyday activities due to its ubiquity and adhesiveness. A method to determine the origin of soil precisely would therefore be useful in forensic casework as it can provide insight into a person`s or object`s previous whereabouts. To evaluate the potential of microbiomes for soil provenance determination, we collected soil samples from 15 locations in and around Oslo, Norway. Samples were collected multiple times from the same locations to assess changes in the microbiome over time. Additionally, a mock soil stain on clothing sample was collected at each site to validate this sample type. The microbial composition of samples was determined via amplicon sequencing of the V4 region of the 16S rRNA bacterial gene. Our results showed that the microbiomes were significantly impacted by location, with both soil and soil stain samples from the same site mainly exhibiting greater similarity than those from different sites. Notably, seasonal variations affected microbiome composition, leading to significant changes in some locations. Machine learning was employed to associate samples with their geographic origins, achieving classification accuracies above 85 % for both soil stain samples and soil samples collected within one week of each other. However, accuracies were lower for samples collected across different seasons, between 55 % and 64 %, indicating that temporal variation can limit the reliability of soil microbiome analysis when there is a delay between sample collection times.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103408"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145694553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the efficiency of different sets of microhaplotypes for first to third degree kinships 探索不同微单倍型组对一至三度亲缘关系的效率
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2026-01-06 DOI: 10.1016/j.fsigen.2026.103420
Xiao-Ye Jin , Li-Shuai Tan , Zhi Chen , Qing-Zhen Meng , Yao-Sen Feng , Chi Zhang , Ke-Lai Kang , Jie Zhao , Jing Sun , Yu-Heng Wu , Shi-Yao Sun , Bofeng Zhu , Jian Ye , Le Wang
{"title":"Exploring the efficiency of different sets of microhaplotypes for first to third degree kinships","authors":"Xiao-Ye Jin ,&nbsp;Li-Shuai Tan ,&nbsp;Zhi Chen ,&nbsp;Qing-Zhen Meng ,&nbsp;Yao-Sen Feng ,&nbsp;Chi Zhang ,&nbsp;Ke-Lai Kang ,&nbsp;Jie Zhao ,&nbsp;Jing Sun ,&nbsp;Yu-Heng Wu ,&nbsp;Shi-Yao Sun ,&nbsp;Bofeng Zhu ,&nbsp;Jian Ye ,&nbsp;Le Wang","doi":"10.1016/j.fsigen.2026.103420","DOIUrl":"10.1016/j.fsigen.2026.103420","url":null,"abstract":"<div><div>Microhaplotypes (MHs) are short, multi-allelic genetic markers that combine high genomic abundance with low mutation rates and the absence of stutter artefacts in PCR. These properties make them promising genetic markers for resolving complex kinships in forensic genetics. In this study, 202 MHs were genotyped in 181 family samples. By integrating empirical genotyping with extensive in-silico simulations, we evaluated the ability of these 202 MHs to identify first-, second-, and third-degree relationships from unrelated pairs. Additionally, four previously selected sets of MHs (190, 301, 337 and 703 MHs) were re-examined to determine their respective effectiveness across these kinship classes. The 202 MHs reliably distinguished first-degree relatives from unrelated individuals and other types of kinships. In addition, these 202 MHs could also discriminate second-degree relatives from unrelated individuals with the accuracy &gt; 0.99. In contrast, the panel’s performance declined markedly for third-degree relationships, and obtained accuracy was less than 0.5 when analytical threshold of cumulative likelihood ratio was set as 10<sup>4</sup> and 10<sup>−4</sup>. The four alternative panels (190, 301, 337 and 703 MHs) exhibited similarly high effectiveness for first- and second-degree relationships with the accuracy &gt; 0.99. For third-degree relationships, accuracy increased monotonically with the number of microhaplotypes. Specifically, the 337-MH and 703-MH sets correctly assigned the majority of third-degree pairs regardless of the threshold adopted, indicating their suitability for third-degree kinship testing. In summary, the 202-MH panel could serve as a highly efficient tool for first- and second-degree kinship testing in forensic practice. In addition, panels containing 337 or 703 MHs are recommended for third-degree analyses. Future work should further improve performance by integrating MHs with other types of genetic markers to address intricated kinship analysis.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103420"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145938493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic and isotopic analyses of medieval skeletons (1150–1349) at St. Peter’s churchyard, Berlin/Cölln, Germany 柏林圣彼得教堂墓地中世纪骨骼(1150-1349)的遗传和同位素分析/Cölln,德国
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2026-01-16 DOI: 10.1016/j.fsigen.2026.103427
Kristin Rath , Marion Tichomirowa , Alexandra Käßner , Jessica Rothe , Kristina Killgrove , Martin Bodner , Sascha Willuweit , Claudia Melisch , Marion Nagy
{"title":"Genetic and isotopic analyses of medieval skeletons (1150–1349) at St. Peter’s churchyard, Berlin/Cölln, Germany","authors":"Kristin Rath ,&nbsp;Marion Tichomirowa ,&nbsp;Alexandra Käßner ,&nbsp;Jessica Rothe ,&nbsp;Kristina Killgrove ,&nbsp;Martin Bodner ,&nbsp;Sascha Willuweit ,&nbsp;Claudia Melisch ,&nbsp;Marion Nagy","doi":"10.1016/j.fsigen.2026.103427","DOIUrl":"10.1016/j.fsigen.2026.103427","url":null,"abstract":"<div><div>The medieval market Berlin, nucleus and starting point of what eventually became Germany’s capital, was mirrored by another medieval settlement named Cölln (Lat. <em>colonia</em>) on the opposite side of the Spree River. In Cölln, St. Peter’s cemetery was in use from about 1150–1717. In this study we investigated individuals from the earliest graves of this cemetery regarding their geographic origin using genetic analyses on bones and teeth as well isotopic analyses on dental enamel. Genetic analysis of 96 individuals was done for 16 autosomal STRs as well as the amelogenin marker for sex determination. We identified 54 unrelated males, who were typed for 27 Y-chromosomal STRs and assigned to 12 different Y-haplogroups. The Y-haplogroup distribution of St. Peter’s showed a high similarity to the population of present-day Germany with high amounts of both R1a (31.5 %) and R1b (44.4 %) as well as I1 (11.1 %) and I2a (7.4 %). Geographic ancestry prediction, using AMOVA analysis, revealed a high genetic similarity between the populations of St. Peter’s and the present-day German population. Significant differences could be detected for neighboring western and eastern European populations. MtDNA typing for all 96 individuals using coding region SNPs demonstrated a characteristic European distribution with haplogroups H (46.9 %), U (17.7 %), T (12.5 %), J (7.3 %) and K (8.3 %). Further typing for 48 individuals was done by sequencing the full mtDNA control region, revealing only trace amounts of Slavic-associated haplogroups. The strontium and oxygen isotope analysis of 66 of the earliest graves showed that most individuals came from the Berlin-Brandenburg area and the adjacent regions, with signs of migration limited to a few individuals.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103427"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146037185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Using autosomal and X-chromosomal SNPs to identify a victim of the 1956 Marcinelle mining disaster 使用常染色体和x染色体snp来识别1956年马西内勒矿难的受害者。
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2025-12-12 DOI: 10.1016/j.fsigen.2025.103409
Magnus D. Vigeland , Stijn Desmyter , Pernilla Haage , Henrik Nordtorp , Femke Van Puymbrouck , Adam Staadig , Andreas Tillmar , Beatrijs Vanhooydonck , Thore Egeland
{"title":"Using autosomal and X-chromosomal SNPs to identify a victim of the 1956 Marcinelle mining disaster","authors":"Magnus D. Vigeland ,&nbsp;Stijn Desmyter ,&nbsp;Pernilla Haage ,&nbsp;Henrik Nordtorp ,&nbsp;Femke Van Puymbrouck ,&nbsp;Adam Staadig ,&nbsp;Andreas Tillmar ,&nbsp;Beatrijs Vanhooydonck ,&nbsp;Thore Egeland","doi":"10.1016/j.fsigen.2025.103409","DOIUrl":"10.1016/j.fsigen.2025.103409","url":null,"abstract":"<div><div>The 1956 mining disaster in Marcinelle, Belgium, claimed 262 lives, among them 14 victims who could not be identified at the time. Their remains were exhumed in 2021 for identification, including DNA testing. We report here on the successful genetic identification of one of these victims, achieved by matching against three distant relatives using the FORCE SNP panel. In addition to likelihood ratio (LR) calculations, we implemented a novel identity-by-descent (IBD) segment detector suitable for low-density SNP panels and applied it to both the autosomal and X-chromosomal data. This study confirms that SNP panels can resolve long-standing missing person cases by matching against distant relatives, and highlights the utility of IBD segment detection as a supplement to LRs in such cases. Finally, it demonstrates the power of X-chromosomal SNP analysis when the pedigree permits it.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103409"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145764126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Post-mortem genetic testing: Role in sudden cardiac death in the young 死后基因检测:在年轻人心脏性猝死中的作用。
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2025-12-20 DOI: 10.1016/j.fsigen.2025.103414
Cecilia Salzillo , Andrea Marzullo
{"title":"Post-mortem genetic testing: Role in sudden cardiac death in the young","authors":"Cecilia Salzillo ,&nbsp;Andrea Marzullo","doi":"10.1016/j.fsigen.2025.103414","DOIUrl":"10.1016/j.fsigen.2025.103414","url":null,"abstract":"<div><div>Sudden cardiac death in the young (SCDY) poses a significant challenge to modern medicine, frequently leaving its cause unidentified even after a conventional autopsy. Postmortem genetic testing, which incorporates genetic analysis into post-mortem investigations, is increasingly recognised as a vital tool for uncovering underlying genetic factors. This opinion article explores the importance of post-mortem genetic testing in enhancing the understanding of SCDY, highlighting its diagnostic potential, clinical implications for family members, and its role in advancing healthcare research and organisation.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103414"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145822430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of DNA recovery from improvised explosive device components after detonations 爆炸后简易爆炸装置部件DNA恢复评估
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2025-12-31 DOI: 10.1016/j.fsigen.2025.103418
Ghassan Ali Salih , Martina Nilsson , Moa Lidén , Marie Allen
{"title":"Evaluation of DNA recovery from improvised explosive device components after detonations","authors":"Ghassan Ali Salih ,&nbsp;Martina Nilsson ,&nbsp;Moa Lidén ,&nbsp;Marie Allen","doi":"10.1016/j.fsigen.2025.103418","DOIUrl":"10.1016/j.fsigen.2025.103418","url":null,"abstract":"<div><div>Improvised explosive devices (IEDs) are commonly utilised by terrorist and criminal groups, and can be constructed using inexpensive and readily accessible materials. Despite the challenges posed by detonation, the DNA of those who made or placed the device may be recovered from the components of detonated IEDs. However, the recovered DNA is often scarce, degraded, damaged, and in the form of both cell-bound and cell-free DNA from, for example, skin contact. This study examines the recovery and the success of downstream analysis of DNA from various biological sources, including cell-bound blood and touch DNA and extracted cell-free DNA. DNA from different sources was deposited on different IED components with different surface materials. The IEDs were detonated using 40 g, 80 g, or 125 g of dynamite and DNA was sampled and analysed using real-time qPCR, STR analysis and mtDNA sequencing. The results indicated that multiple factors, including the type of DNA from different biological sources, dynamite weight, component type, DNA location and surface material, influenced the rate of successful genotyping. It was also demonstrated that the DNA quantities, and the success in STR profiling and mtDNA amplification were highly correlated for both cell-bound DNA and cell-free DNA. Moreover, sampling from internal phone components and PVC surfaces demonstrated higher DNA-typing success rates than DNA on external phone surfaces or metal-based components (SIM card holder, electrical wires, and circuit boards). DNA from blood revealed the highest rates of successful STR genotyping results across most detonated IED components, even for the highest weights of dynamite tested. Furthermore, mtDNA sequencing demonstrated a high success rate for low-template samples, even after the use of high amounts of explosive weight. A majority of DNA traces found on detonated IEDs are likely to consist of touch DNA from the production of the device. Here, the touch DNA samples on 9 V batteries yielded more DNA and higher success in DNA profiling than DNA on toggle switches and metal-containing electrical wires. These findings provide valuable insights into practical strategies for DNA recovery and analysis in IED-related forensic investigations.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103418"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145938491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An evaluation of ForenSeq DNA Signature Prep iiSNP mixture interpretation using a probabilistic genotyping method 使用概率基因分型方法评估ForenSeq DNA Signature Prep iiSNP混合解释。
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2026-01-17 DOI: 10.1016/j.fsigen.2026.103428
Kevin Cheng, Jo-Anne Bright
{"title":"An evaluation of ForenSeq DNA Signature Prep iiSNP mixture interpretation using a probabilistic genotyping method","authors":"Kevin Cheng,&nbsp;Jo-Anne Bright","doi":"10.1016/j.fsigen.2026.103428","DOIUrl":"10.1016/j.fsigen.2026.103428","url":null,"abstract":"<div><div>The analysis of autosomal short tandem repeat markers (STRs) using capillary electrophoresis (CE) technology remains the dominant method for forensic investigations globally. However, next-generation sequencing technologies are increasingly being adopted as they enable simultaneous amplification of both STR and SNP (single-nucleotide polymorphisms) loci in large panels, amongst other benefits. Unlike STRs, which are highly variable or polymorphic, the majority of SNPs are biallelic, meaning there are only two allelic variants. A single SNP marker on its own is unlikely to provide as much evidentiary value as a single STR marker. However, the interpretation of SNP markers from mixed DNA evidence is computationally simpler than that of STR markers because they do not produce stutter artefacts and, being biallelic, there are fewer possible genotype combinations. SNPs are increasingly recognised as valuable markers, complementary to STRs, and have been proven to be useful for applications including kinship analyses, informing ancestry, providing phenotypic characters for investigative leads, or forensic investigative genetic genealogy. The most common approach for the interpretation of autosomal STR (aSTR) profiles developed using CE technology within the US, UK, and Australasia is now based on probabilistic genotyping methods. Some of these published and tested models have been applied to aSTR profiles developed using NGS technologies and in this paper, we investigate the application of one such model (STRmix™ NGS) to the interpretation of mixed SNP profiles. Comparisons of likelihood ratios (LRs) assigned to donors and non-donors show expected trends in single-source profiles. However, in more complex mixtures, the system’s ability to differentiate between true and false donors diminishes quickly. This is consistent with theoretical limitations for biallelic markers. While this study is limited to the 94 iiSNPs (identity informative SNPs) included in the ForenSeq kit, the findings suggest that simple SNP profiles can be interpreted within the existing STRmix™ NGS framework. This provides another potential tool for SNP profile analysis and lays the foundation for future joint interpretation of STR and SNP markers, or assays with more SNP markers.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103428"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146014096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cell-type-dependent expression of a somatic tri-allelic pattern at D18S51 and Penta D: The statistical interpretation of forensic evidence in sexual assault investigations D18S51和Penta D中体细胞三等位基因模式的细胞类型依赖性表达:性侵犯调查中法医证据的统计解释
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2026-01-10 DOI: 10.1016/j.fsigen.2026.103425
A. Sala , M. Caputo , C. Schatz , D. Corach , T. Egeland , F. Marsico
{"title":"Cell-type-dependent expression of a somatic tri-allelic pattern at D18S51 and Penta D: The statistical interpretation of forensic evidence in sexual assault investigations","authors":"A. Sala ,&nbsp;M. Caputo ,&nbsp;C. Schatz ,&nbsp;D. Corach ,&nbsp;T. Egeland ,&nbsp;F. Marsico","doi":"10.1016/j.fsigen.2026.103425","DOIUrl":"10.1016/j.fsigen.2026.103425","url":null,"abstract":"<div><div>Tri-allelic patterns, though rare, present a significant interpretive challenge in forensic genetics. Their misinterpretation as a DNA mixture can lead to flawed statistical assessment, particularly for likelihood ratio (LR) calculations. However, when correctly identified, a tri-allelic pattern can serve as a powerful identifying marker, increasing the evidential value of a match between a POI (person of interest) and forensic evidence. This case report analyses a sexual assault investigation involving the analysis of cloth fragments, subungual, anal, vulvar, and vaginal swabs, alongside reference samples from the victim and suspect. The POI’s buccal reference sample exhibited a tri-allelic pattern at the D18S51 locus (alleles: 16, 17, 18) and a substantial peak height imbalance (PHR = 0.16) at Penta D. We found that this tri-allelic pattern corresponds to a Type 1, an early embryonic somatic mutation. While some evidence items yielded mixed profiles of the victim and suspect, others including a cloth fragment, two subungual swabs, and an anal swab revealed a single-source male profile matching the POI. Critically, the tri-allelic pattern was observed across multiple evidence types, but the relative proportion of the three alleles (the intra-locus ratio) varied systematically depending on the tissue origin of the sample. This finding suggests cell-type-dependent genetic makeup of the somatic mutation, a phenomenon known as mosaicism. We discuss the characteristics of this pattern, postulate its embryonic origin, and propose a framework for its statistical incorporation into the LR. This case underscores that recognition of the biological mechanism is essential to avoid misinterpretation and can provide stronger evidence of genetic identification in forensic casework. The freely available app LRtri, <span><span>https://francomarsico.shinyapps.io/LRtri/</span><svg><path></path></svg></span>, can be used to explore the uncertainty in the LR.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103425"},"PeriodicalIF":3.1,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145977149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Likelihood ratio estimation of partial Y-STR profile matches using discrete Laplace models and marginalisation 使用离散拉普拉斯模型和边缘化的部分Y-STR剖面匹配的似然比估计。
IF 3.1 2区 医学
Forensic Science International-Genetics Pub Date : 2026-03-01 Epub Date: 2025-12-16 DOI: 10.1016/j.fsigen.2025.103411
Tóra Oluffa Stenberg Olsen , Poul Svante Eriksen , Niels Morling , Mikkel Meyer Andersen
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