Forensic Science International-Genetics最新文献

{"title":"Kinship cases with partially specified hypotheses","authors":"Thore Egeland ,&nbsp;Magnus Dehli Vigeland","doi":"10.1016/j.fsigen.2025.103270","DOIUrl":"10.1016/j.fsigen.2025.103270","url":null,"abstract":"<div><div>Forensic kinship testing is the statistical comparison of a set of hypothesised relationships, based on genetic marker data from the individuals in question and possibly other relatives. In most circumstances each hypothesis is completely specified in terms of a pedigree, but this is not always the case in more complex scenarios. For example, suppose that we are asked to test <span><math><msub><mrow><mi>H</mi></mrow><mrow><mn>1</mn></mrow></msub></math></span>: <em>A is the grandmother of B</em>, against <span><math><msub><mrow><mi>H</mi></mrow><mrow><mn>2</mn></mrow></msub></math></span>: <em>A and B are unrelated</em>, and that the data also includes a third individual whose relationship with the others is uncertain. There may then be multiple pedigrees consistent with each hypothesis, with the consequence that the standard likelihood ratio (LR) cannot be calculated unless prior probabilities are specified for all alternatives.</div><div>In response to these challenges we introduce a <em>generalised likelihood ratio</em> (GLR), defined as the ratio of the maximal likelihood of the data given <span><math><msub><mrow><mi>H</mi></mrow><mrow><mn>1</mn></mrow></msub></math></span> to the maximal given <span><math><msub><mrow><mi>H</mi></mrow><mrow><mn>2</mn></mrow></msub></math></span>. This resembles a version of the LR test used in classical hypothesis testing, but differs in several aspects. Most importantly, in the forensic setting we usually consider discrete alternatives rather than continuous parameter spaces.</div><div>The properties of the GLR statistic are explored through real-life examples of kinship testing and disaster victim identification (DVI). In particular, we demonstrate how the GLR may help to resolve and report the results in complex DVI cases. As a final application we demonstrate how the GLR can be used to check correctness of pedigree data, an essential quality control step in projects involving genotypes from related individuals. Unlike the other examples, this one operates over a continuous parameter space, enabling tools from classical statistics to guide decision-making.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103270"},"PeriodicalIF":3.2,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143776393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Remains of the German outlaw Johannes Bückler alias Schinderhannes identified by an interdisciplinary approach","authors":"Walther Parson ,&nbsp;Amelie Alterauge ,&nbsp;Christina Amory ,&nbsp;Sarah Heinze ,&nbsp;Stefan Hölzl ,&nbsp;Ralf G. Jahn ,&nbsp;Christine Lehn ,&nbsp;Timo Sänger ,&nbsp;Catarina Xavier ,&nbsp;Andreas Tillmar ,&nbsp;Karen Nolte ,&nbsp;Sabine Lutz-Bonengel ,&nbsp;Sara Doll","doi":"10.1016/j.fsigen.2025.103276","DOIUrl":"10.1016/j.fsigen.2025.103276","url":null,"abstract":"<div><div>Two mounted skeletons assigned to the famous German criminals <em>Schinderhannes</em> and <em>Hölzerlips</em> were on display at the Anatomical Collection of Heidelberg University for two centuries. However, doubts about their authenticity existed for decades. Based on historical research, an interdisciplinary team with experts from the fields of anatomy, radiology, anthropology, genealogy and molecular biology set out to examine the remains from the following perspectives: (1) Isotope analyses were carried out to compare inferred childhood residences with historical narratives, (2) anthropological and radiological examinations were documented and compared with historical records, (3) genealogical research identified a living male descendant along the maternal line and (4) mitogenome sequencing as well as nuclear SNP analysis using the FORCE panel provided compelling evidence for the identification of Schinderhannes’ remains. Additionally, the prediction of eye, hair and skin color from the DNA offered science-based data to clarify conflicting historical records.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103276"},"PeriodicalIF":3.2,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143715073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Forensic investigative genetic genealogy using genotypes generated or imputed from transcriptomes","authors":"Daniel Kling ,&nbsp;Alberte Honoré Jepsen ,&nbsp;Marie-Louise Kampmann ,&nbsp;Stine Bøttcher Jacobsen ,&nbsp;Andreas Tillmar ,&nbsp;Claus Børsting ,&nbsp;Jeppe Dyrberg Andersen","doi":"10.1016/j.fsigen.2025.103277","DOIUrl":"10.1016/j.fsigen.2025.103277","url":null,"abstract":"<div><div>The utility of transcriptome analysis in forensic genetics is steadily increasing. The transcriptome, with its ability to reflect both transcript levels and their nucleotide sequences, is proving to be useful for a variety of different applications, including body fluid identification and donor assignment, thereby providing both genetic and contextual information. Furthermore, the substantial single nucleotide polymorphism (SNP) coverage obtainable with whole transcriptome sequencing may prove useful for additional applications. In this study, we expand the current knowledge of transcriptomics in forensic genetics by showing how RNA can be used for forensic investigative genetic genealogy (FIGG) purposes and inference of distant relationships. Genetic data was simulated for relationships ranging from full siblings (first-degree relatives) to third cousins (seventh-degree relatives). The sets of SNP genotypes were subsequently reduced to only include observed and imputed SNP genotypes at loci covered by transcriptome sequencing of whole blood. The relationships of relatives as distant as second cousins could be reliably classified based on an average of 99,548 SNPs. Appropriate thresholds for sequence quality parameters limited the rate of erroneous genotype calls, with the remaining errors proving to have little to no effect on relationship inference. In conclusion, we present a proof-of-concept study on how transcriptome-based genotypes, in combination with imputed genotypes, may be used for reliable relationship inference for FIGG purposes.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103277"},"PeriodicalIF":3.2,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the effect of marker panel sizes on estimation of bio-geographical co-ancestry proportions","authors":"M. de la Puente ,&nbsp;L. Casanova-Adán ,&nbsp;J. González-Bao ,&nbsp;J. Pardo-Seco ,&nbsp;A. Mosquera-Miguel ,&nbsp;A. Ambroa-Conde ,&nbsp;J. Ruiz-Ramírez ,&nbsp;A. Cabrejas-Olalla ,&nbsp;M. Boullón-Cassau ,&nbsp;A. Freire-Aradas ,&nbsp;A. Rodríguez ,&nbsp;C. Phillips ,&nbsp;M.V. Lareu","doi":"10.1016/j.fsigen.2025.103275","DOIUrl":"10.1016/j.fsigen.2025.103275","url":null,"abstract":"<div><div>A large number of ancestry-informative marker panels have been developed for forensic bio-geographical ancestry (BGA) analysis during the past decade, which offer valuable investigative tools for cold cases. The developed assays for capillary electrophoresis (CE) and massively parallel sequencing (MPS) focus on the differentiation of major populations, with MPS allowing larger numbers of markers that can be multiplexed at the same time and therefore improved differentiation of more closely related Eurasian populations. One limitation of BGA inference tools is the handling of co-ancestry in individuals with admixted backgrounds, which leads to two situations being indistinguishable: (i) the individual belongs to an admixed population, or (ii) the individual has recent ancestors from different populations. Accurate and precise co-ancestry estimates can help, as first or second-degree admixture would show a ∼ 50–50 % or ∼ 75–25 % ratio of co-ancestry proportions. Here we compared the co-ancestry proportion estimations obtained for the set of 2504 individuals from the 1000 Genomes Project with dedicated BGA and human identification (ID) assays of different sizes compared to those obtained with the &gt; 500,000 SNP Affymetrix Human Origins panel as the point of reference for each individual. The results of the correlation analysis performed with &gt; 500 admixed individuals indicate that panel size plays a major role in the accuracy of the co-ancestry estimates. Therefore, the large-scale forensic MPS ID panels we evaluated constitute a valuable alternative to small- and medium-scale BGA panels, especially when admixture is expected.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103275"},"PeriodicalIF":3.2,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674984","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}

{"title":"A continuous model for interpreting microhaplotype profiles of forensic DNA mixtures","authors":"Yuting Wang,&nbsp;Tingyun Hou,&nbsp;Qiang Zhu,&nbsp;Yuhan Hu,&nbsp;Haoyu Wang,&nbsp;Yifan Wei,&nbsp;Yufang Wang,&nbsp;Ji Zhang","doi":"10.1016/j.fsigen.2025.103271","DOIUrl":"10.1016/j.fsigen.2025.103271","url":null,"abstract":"<div><div>Microhaplotypes (MHs) have great potential in forensic DNA analysis, with applications in individual identification, kinship analysis and ancestry inference. No matter the forensic application, the analysis of DNA mixtures may be encountered. This study aims to develop and evaluate a continuous model for interpreting mixed genotype data from MH markers. We characterized MH profile features and modeled allele read counts using a truncated Gaussian distribution, accounting for allele dropout, noise, and locus-specific detection efficiency. The model was tested on 90 DNA mixtures generated from nine unrelated individuals across various mixture proportions. Likelihood ratio (LR) values were computed for both true contributors and non-contributors, and mixture deconvolution was performed. Results demonstrated high accuracy and specificity in interpreting MH profiles for 2- to 3-person DNA mixtures: true contributors obtained LR values greater than 1 in 190 out of 200 LR calculations. In 26,700 simulated non-contributor tests, for 2-person mixtures, the proportion of non-contributors with an LR greater than 1 was 0.0051 %; for 3-person mixtures, this proportion was 4.68 %. Excluding balanced individuals in mixtures, the average deconvolution accuracy rate for major contributors was 0.9145, with 60.98 % (100/164) achieving an accuracy rate of 1. Additionally, we observed that distinguishing alleles from non-alleles became increasingly challenging with higher mixture proportions or additional contributors, with noise identified as a critical factor affecting genotyping accuracy.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103271"},"PeriodicalIF":3.2,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680109","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}

{"title":"Mitochondrial genome sequencing with ForenSeq™ mtDNA Whole Genome Kit","authors":"Jinfeng Xuan ,&nbsp;Guannan Long ,&nbsp;Haiduo Wu ,&nbsp;Ze Liu ,&nbsp;Biao Zhang ,&nbsp;Shaobo Yu ,&nbsp;Fu Ren ,&nbsp;Fei Guo","doi":"10.1016/j.fsigen.2025.103274","DOIUrl":"10.1016/j.fsigen.2025.103274","url":null,"abstract":"<div><div>Mitochondrial DNA (mtDNA) possesses unique genetic characteristics and plays a crucial role in forensic DNA analysis. Based on the massively parallel sequencing (MPS) technology alongside the short overlapping amplicon method, the ForenSeq™ mtDNA Whole Genome Kit is specifically designed for mtDNA analysis. In this study, we employ the ForenSeq™ mtDNA Whole Genome Kit on the MiSeq FGx® Sequencing System for mitochondrial genome (mtGenome) sequencing across nine consecutive runs and assess its MPS performance, such as read depth (RD), forward/reverse strand bias (SB), and mtGenome coverage. Furthermore, we conduct internal validations to evaluate its routine application in forensic sciences, including sensitivity, repeatability, concordance, degraded samples, inhibitor samples, case-type samples, and contamination. As a result, the Real-Time Analysis (RTA) and Universal Analysis Software (UAS) demonstrate proficient run metrics and MPS performance when 12–14 libraries are sequenced within a standard flow cell, achieving &gt; 80 % of reads passing filter, &gt; 80 % bases with ≥Q30, &gt; 5000 × of the average RD, ∼1.0 of the average SB, &gt; 70 % of the inter-amplicon balance, and &gt; 99 % of the mtGenome coverage. The five most vulnerable amplicons, exhibiting low RD and high SB, are identified as nucleotide positions (nps) 1094–1177, 5858–5975, 6109–6149, 6718–6810, and 7021–7090. For tertiary data analysis, the substitutions are accurately reported by UAS, while insertions and deletions (indels), point heteroplasmies (PHPs), and/or length heteroplasmies (LHPs) still necessitate manual inspection. On average, 40 variants were found in 60 samples, ranging from 27 to 54. A total of 2426 variants are observed at 491 nps. Moreover, the workflow can yield repeatable and reproducible results, generate complete mtGenome profiles from ≥ 2 pg input gDNA for high quality samples/control DNA or ≥ 0.5 cm hair shafts, and recover more/complete mtGenome information from severely degraded samples (degradation index &gt;10) and various types of case samples. If two rounds of purification are conducted, it can more effectively remove additional reaction components and enhance data recovery from the mtGenome, especially for low-input samples. The negative controls in three runs cover some reads, but these contaminations cannot compromise the mitochondrial analyses. In conclusion, the ForenSeq™ mtDNA Whole Genome Kit, including 234 short overlapping amplicons with an average size of 131 bp, can meet forensic needs on the whole mtGenome sequencing in real scenarios. In addition, the ten insights gained from this study may serve as a valuable reference for forensic scientists who are utilizing this kit.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103274"},"PeriodicalIF":3.2,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674941","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}

{"title":"Are microhaplotypes derived from the 1000 Genomes Project reliable for forensic purposes?","authors":"Yifan Wei ,&nbsp;Xi Li ,&nbsp;Qiang Zhu ,&nbsp;Tiantian Shan ,&nbsp;Haoyu Wang ,&nbsp;Xuan Dai ,&nbsp;Yufang Wang ,&nbsp;Ji Zhang","doi":"10.1016/j.fsigen.2025.103273","DOIUrl":"10.1016/j.fsigen.2025.103273","url":null,"abstract":"<div><div>Microhaplotypes (MHs) have emerged as an important genetic marker in forensic genetics. However, most studies have overlooked the potential for phasing errors within microhaplotypes based on the 1000 Genome Project (1kGP), which may impact the evaluation of various forensic parameters and lead to misleading results. In this study, we constructed a dense and extensive set of MHs across the human genome, using the expanded 1000 Genomes Project data aligned to GRCh38 reference genome. We applied three different SNP minor allele frequency (MAF) thresholds (0, 0.01, and 0.05) to evaluate the reliability of these markers. Utilizing pedigree data from 18 populations, which included a total of 602 trios, we scanned for and confirmed suspected phasing error events at these MH loci. We also sequenced 50 MHs for one trio of the Southern Han Chinese (CHS) population to further investigate these discrepancies. The results revealed the presence of phasing errors in MHs from 1kGP when analyzed using targeted enrichment and next-generation sequencing. The probability of suspected phasing error events was strongly and positively correlated with the effective number of alleles (Ae) and informativeness (In) of the markers. Additionally, these mismatch probabilities varied significantly across different continental populations. Additionally, when selecting loci, applying MAF filtering and avoiding regions such as the MHC can reduce the occurrence of such events to some extent. Based on these findings, we suggest that relying solely on sequencing data of the 1kGP for forensic purpose may be risky. A thorough investigation of the true forensic parameters of MHs is essential to ensure their reliability in forensic applications.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103273"},"PeriodicalIF":3.2,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643609","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}

{"title":"Nanopore sequencing of MiniHap biomarkers for forensic DNA mixture deconvolution: A proof-of-principle study","authors":"Jian Zhang ,&nbsp;Xiaoting Mo ,&nbsp;Weiqiang Li ,&nbsp;Cheng Cheng ,&nbsp;Yu Feng ,&nbsp;Yiwen Zhang ,&nbsp;Shengbin Li","doi":"10.1016/j.fsigen.2025.103272","DOIUrl":"10.1016/j.fsigen.2025.103272","url":null,"abstract":"<div><div>Mixture deconvolution remains one of the major challenges in the field of forensic science. Currently, genetic markers are used and studied in the field of forensic genetics, including short tandem repeat (STR), insertion/deletion polymorphism (InDel), single nucleotide polymorphism (SNP), InDel closely linked to STR (DIP-STR), SNP closely linked to STR (SNP-STR), InDel closely linked to SNP (DIP-SNP) and microhaplotype (MH), all of which have been studied for DNA mixture analysis and have their own advantages and disadvantages. Mini-haplotype (MiniHap), as a novel haplotype genetic marker, contains 5 or more SNPs. A previous study has substantiated its significant high polymorphic characteristics, and it is expected to have potential applications in individual identification, paternity testing, ancestry inference, and mixture deconvolution. In this study, we first screened 22 MiniHaps with high polymorphism potential and constructed a panel based on the QNome nanopore sequencing device. Subsequently, we tested 100 unrelated Chinese Han individuals to evaluate the sequencing performance, allele (haplotype) frequencies, effective number of alleles (A_e) and forensic parameters of the 22 MiniHaps markers included in this novel assay. Next, a series of mixture simulations (two- or three-person mixtures with mixing ratios of 1:1–1:99 or 1:1:1–1:8:1) based on three standard materials (9947 A, 9948 and 2800 M) were detected by this MiniHap panel to explore its potential for DNA mixture deconvolution. The average A_e value was 10.9574, and 52.38 % of MiniHap loci had A_e values greater than 12.0000. The mean values of genetic diversity (GD) and power of discrimination (PD) were 0.8717 and 0.9457, respectively. Notably, most MiniHaps (85.71 %) had PD values exceeding 0.9000. The combined match probability (CMP) and combined power of exclusion (CPE) of this MiniHap panel were 4.4505 × 10⁻³¹ and 0.999999999999999996653, respectively. Moreover, the results of mixture analysis demonstrated that this MiniHap panel allowed detecting the components of minor contributor (s) even in imbalanced mixture samples, with detection limits of 1:39 and 1:8:1 for two- and three-person mixtures, respectively. In summary, MiniHap markers have remarkable application potential in mixture deconvolution, and it is necessary to conduct in-depth research on MiniHap markers for mixture analysis in the future.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103272"},"PeriodicalIF":3.2,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644191","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}

{"title":"Unprecedented male relative differentiation with Y-SNVs from whole genome sequencing","authors":"Dion Zandstra ,&nbsp;Arwin Ralf ,&nbsp;Zeliha Ozgur ,&nbsp;Wilfred F.J. van IJcken ,&nbsp;Mohsen Ghanbari ,&nbsp;Manfred Kayser","doi":"10.1016/j.fsigen.2025.103265","DOIUrl":"10.1016/j.fsigen.2025.103265","url":null,"abstract":"<div><div>The principal limitation of forensic Y-STR analysis, which identifies a male lineage rather than an individual man, is being addressed by the discovery and application of rapidly mutating Y-STRs (RM Y-STRs). Due to their higher mutation rates compared to standard Y-STRs used in forensics, RM Y-STRs significantly enhance the ability to differentiate between male relatives. However, some male relatives – particularly closely related ones – remain indistinguishable. Given the design and execution of the two previous RM Y-STR searches that discovered the 26 currently known RM Y-STRs, it is unlikely that future searches will largely increase the number of RM Y-STRs. To address the ongoing forensic challenge of differentiating between male relatives using Y chromosome analysis, this study explorers an alternative approach: Y-chromosomal singe nucleotide variants (Y-SNVs) obtained via whole genome sequencing (WGS). To assess the feasibility of the WGS technology in differentiating closely and distantly related males, we sequenced DNA samples of 24 male individuals belonging to three deep-rooted pedigrees, covering 12 father-son pairs and 72 pairs of distant male relatives separated by 8–15 meioses. Among the 76 meioses analyzed in total, 90 male relative-differentiating Y-SNVs were identified across the approximately 25 Mbp Y chromosome sequence generated per sample. A total of 141 male relative-differentiating Y chromosome mutations were observed when also considering Y-STRs from Yfiler Plus, RMplex, and WGS analyses. Of the 12 father-son pairs, six (50 %) were differentiated by one or more Y-SNVs, and 9 (75 %) with WGS and CE methods combined. All of the 72 pairs of distant male relatives were distinguished both through Y-SNVs and RM Y-STRs. Overall, when compared to RMplex, WGS yielded a 1.7-fold increase in the number of observed mutations in father-son pairs and a 4-fold increase in distantly related males. Our proof-of-principle study demonstrates (i) the feasibility and high value of Y-SNV markers and WGS technology in differentiating both close and distant male relatives; (ii) the superior performance of Y-SNVs from WGS relative to the previously used RM Y-STR markers and RMplex method; and (iii) the enhanced male relative differentiation achieved by combining both marker types and methods. We envision WGS as the method of choice for maximizing male relative differentiation based on Y chromosome information in high-profile criminal cases with male suspects where no autosomal STR profiles are available and where standard Y-STR and RM Y-STR analyses fail to distinguish the suspect from his male paternal relatives.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103265"},"PeriodicalIF":3.2,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143672063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Forensic insights from shotgun metagenomics: Tracing microbial exchange during sexual intercourse","authors":"Mirna Ghemrawi ,&nbsp;Andrea Ramírez Torres ,&nbsp;Michael Netherland Jr. ,&nbsp;Ying Wang ,&nbsp;Nur A. Hasan ,&nbsp;Bassam El-Fahmawi ,&nbsp;George Duncan ,&nbsp;Bruce McCord","doi":"10.1016/j.fsigen.2025.103266","DOIUrl":"10.1016/j.fsigen.2025.103266","url":null,"abstract":"<div><div>The microbiome is becoming an emerging field of interest within forensic science with high potential for individualization; however, little is known about bacterial species specific to the genital area or their ability to transfer between individuals during sexual contact. In this proof-of-concept study, we investigated microbial transfer dynamics in seven monogamous, heterosexual couples by collecting pre- and post-sexual intercourse samples from their genital areas, including penile, vaginal, and labial locations. Utilizing Shotgun Metagenomic Sequencing, we sequenced the microbial profiles of these samples. Our findings reveal significant transfer from the vaginal microbiome onto the penile microbiome, predominantly originating from the labial genitalia. Moreover, strain analysis unveiled distinct differentiation between the same species of bacteria across individuals, underscoring the potential for microbial forensics to distinguish individuals. This study contributes to our understanding of microbial transfer during sexual contact and highlights the forensic implications of the genital microbiome.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103266"},"PeriodicalIF":3.2,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674936","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}