Forensic Science International-Genetics最新文献

{"title":"Probabilities of finding trace profile donors and their paternal relatives in Y-STR reference databases","authors":"Tóra Oluffa Stenberg Olsen ,&nbsp;Niels Morling ,&nbsp;Poul Svante Eriksen ,&nbsp;Marie-Louise Kampmann ,&nbsp;Helle Smidt Mogensen ,&nbsp;Mikkel Meyer Andersen","doi":"10.1016/j.fsigen.2025.103320","DOIUrl":"10.1016/j.fsigen.2025.103320","url":null,"abstract":"<div><div>Forensic investigative genetic genealogy using Y-chromosome short tandem repeat (Y-STR) DNA profiles can give investigative leads in criminal cases by searching for the Y-STR trace profile or similar but not identical Y-STR profiles in relevant Y-STR databases. We conducted a simulation study with Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23 Y-STR profiles to estimate the probabilities of finding matches and near-matches in Y-STR databases. The success rate of finding the trace profile donors or their close relatives was quantified. We used the malan R software package to simulate the populations based on the Wright-Fisher model with the YHRD Y-STR mutation rates where uncertainties were incorporated in a Bayesian manner, a variance in reproductive success of 0.2, and a constant size for 100 generations followed by a 2% growth for 150 generations. Y-STR databases were generated by randomly drawing Y-STR profiles from a Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23 Y-STR population data set, respectively.</div><div>In a population of <span><math><mrow><mn>500</mn><mo>,</mo><mn>066</mn></mrow></math></span> individuals, a database size of 0.5% of the population resulted in a Y-STR database match probability of ca. 6% and 10% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively. Increasing the database size to 5% of the population resulted in a Y-STR match probability of ca. 41% and 54% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively. When a Y-STR match was found in the database, the probability of one of the individuals with the matching profiles being related within five meioses to the trace donor was ca. 64% and 56% for Yfiler<span><math><msup><mrow></mrow><mrow><mtext>TM</mtext></mrow></msup></math></span> Plus and PowerPlex® Y23, respectively, including the cases where the Y-STR profile originated from the donor. In this case, the closest relative in the database was found among the matching individuals with a probability of ca. 91%.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"80 ","pages":"Article 103320"},"PeriodicalIF":3.2,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704750","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":"Corrigendum to “Large-scale selection of highly informative microhaplotypes for ancestry inference and population specific informativeness” [Forensic Sci. Int.: Genet. 74 (2024) 103153]","authors":"Maria Luisa de Barros Rodrigues ,&nbsp;Marcelo Porto Rodrigues ,&nbsp;Heather L. Norton ,&nbsp;Celso Teixeira Mendes-Junior ,&nbsp;Aguinaldo Luiz Simões ,&nbsp;Daniel John Lawson","doi":"10.1016/j.fsigen.2025.103319","DOIUrl":"10.1016/j.fsigen.2025.103319","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103319"},"PeriodicalIF":3.2,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621550","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":"Letter to the editor: Reassessing STR-based haplogroup prediction for underrepresented clades like J2b1","authors":"Tareef Fadhil Raham","doi":"10.1016/j.fsigen.2025.103318","DOIUrl":"10.1016/j.fsigen.2025.103318","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103318"},"PeriodicalIF":3.2,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570585","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":"Should the police use genetic genealogy databases to assist in solving crime? Survey among university students","authors":"Hannah Marlor,&nbsp;Kate Randall,&nbsp;Aaron Opoku Amankwaa","doi":"10.1016/j.fsigen.2025.103317","DOIUrl":"10.1016/j.fsigen.2025.103317","url":null,"abstract":"<div><div>Genetic genealogy databases have been utilised as a novel tool by law enforcement to generate leads in difficult criminal investigations. This technique involves searching ancestry databases that contain voluntarily uploaded DNA to identify genetic relatives of unknown suspects. The arrest of the notorious Golden State Killer using this method in 2018 brought the use of these techniques into the public eye. However, public perspectives on whether law enforcement should be granted access to this information is understudied. This study explored the attitudes towards police access to genetic genealogy amongst 373 university students through an online survey. Overall, students expressed moderate conditional support, with higher support levels for investigation of violent crimes (76 %) and crimes against children (78 %) compared to reluctant support for non-violent crimes (60 %). Women displayed greater support than men for police access (<em>p</em> &lt; 0.05) in cases of violent crime (86 % vs. 75 %), crimes against children (87 % vs. 72 %), missing persons (84 % vs 76 %), and identifying human remains (88 % vs 78 %). Younger students aged 18–24 exhibited higher support for police access for violent crimes and missing persons cases than older students aged 35–50 (<em>p</em> &lt; 0.05) (85 % vs. 76 %, and 86 % vs. 72 %, respectively). Qualitative findings emphasised participants’ desire for oversight and protecting individual rights through warrant requirements to prevent overreach, whilst allowing societal benefits. This study provides initial evidence that educated young people recognise the potential forensic value of police access to genetic genealogy but favour strict regulations that reflect crime severity. This data can inform policy debates and legislative frameworks, balancing the utility and ethics of emerging genetic technologies. Further research across diverse populations is required to guide well informed legislations.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103317"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144471752","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":"Advancing biogeographical ancestry predictions through machine learning","authors":"Carola Sophia Heinzel ,&nbsp;Lennart Purucker ,&nbsp;Frank Hutter ,&nbsp;Peter Pfaffelhuber","doi":"10.1016/j.fsigen.2025.103290","DOIUrl":"10.1016/j.fsigen.2025.103290","url":null,"abstract":"<div><div>Tools like <span>Snipper</span> or the Admixture Model count as state-of-the-art methods in forensic science for biogeographical ancestry. However, they have not been systematically compared to classifiers widely used in other disciplines. Noting that genetic data have a tabular form, this study addresses this gap by benchmarking forensic classifiers against <span>TabPFN</span>, a cutting-edge, general-purpose machine learning classifier for tabular data. The comparison evaluates performance using metrics such as accuracy – the proportion of correct classifications – and ROC AUC. We examine classification tasks for individuals at both the intracontinental and continental levels, based on a published dataset for training and testing. Our results reveal significant performance differences between methods, with <span>TabPFN</span> consistently achieving the best results for accuracy, ROC AUC and log loss. E.g., for accuracy, <span>TabPFN</span> improves <span>SNIPPER</span> from 84% to 93% on a continental scale using eight populations, and from 43% to 48% for inter-European classification with ten populations.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103290"},"PeriodicalIF":3.2,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144291596","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":"Inter-laboratory evaluation of the VISAGE enhanced tool and models for age estimation from blood and buccal cells","authors":"Antonia Heidegger ,&nbsp;Martina Unterländer ,&nbsp;Lena Ewers ,&nbsp;Georg Ausserer Staubmann ,&nbsp;Harald Niederstätter ,&nbsp;Lisa Marinelli ,&nbsp;Angelika Fürst ,&nbsp;Jakob Niewöhner ,&nbsp;María de la Puente ,&nbsp;Ewa Kartasińska ,&nbsp;Anna Woźniak ,&nbsp;Ewelina Pośpiech ,&nbsp;Iris Buckel ,&nbsp;Natalie Schneewind ,&nbsp;Maja Sidstedt ,&nbsp;Marina Ventayol García ,&nbsp;François-Xavier Laurent ,&nbsp;Ayhan Ulus ,&nbsp;Julien Vannier ,&nbsp;Anna Delest ,&nbsp;Walther Parson","doi":"10.1016/j.fsigen.2025.103316","DOIUrl":"10.1016/j.fsigen.2025.103316","url":null,"abstract":"<div><div>Over the past decade, numerous assays for forensic age estimation based on the analysis of DNA methylation markers have been developed, demonstrating significant potential for use in criminal investigations. Despite these advancements, only few comprehensive evaluation studies were published. In this study, we present findings of an extensive inter-laboratory evaluation of the VISAGE Enhanced Tool and its associated statistical models for epigenetic age estimation in blood and buccal swabs. Six laboratories conducted reproducibility, concordance, and sensitivity assessments using DNA methylation controls alongside blood and saliva samples to evaluate the tool's technical performance. Results demonstrated consistent and reliable DNA methylation quantification across all participating laboratories, with the tool maintaining sensitivity even with a DNA input of 5 ng for bisulfite conversion. To evaluate the age estimation models, 160 blood and 100 buccal swab samples were analysed in three laboratories. The models achieved mean absolute errors (MAEs) of 3.95 years for blood and 4.41 years buccal swabs, which represents an increase of ∼0.7 years for both tissues to the results from the original VISAGE testing set. When comparing results of each laboratory with the original VISAGE testing set, significant differences were found only for age estimation results from blood of one laboratory with an underestimation of chronological age observed within the entire range tested at that laboratory. When excluding this laboratory, the MAE decreased to 3.1 years (N = 89). No significant differences among laboratories were found for buccal swabs. Overall, this study confirms that the VISAGE Enhanced Tool performs robust DNA methylation quantification and reliable age prediction, however protocol and model validation within each laboratory is required upon implementation.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103316"},"PeriodicalIF":3.2,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144298624","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 multiplex bacterial assay for identifying vaginal fluid in various individual states and mixture stains","authors":"Linying Ye ,&nbsp;Xiaofeng Zhang ,&nbsp;Xueyuan Liu ,&nbsp;Litao Huang ,&nbsp;Xiaohui Chen ,&nbsp;Yangyang Zheng ,&nbsp;Jieyu Du ,&nbsp;Miaoqiang Lun ,&nbsp;Quyi Xu ,&nbsp;Weian Du ,&nbsp;Chao Liu ,&nbsp;Ling Chen","doi":"10.1016/j.fsigen.2025.103304","DOIUrl":"10.1016/j.fsigen.2025.103304","url":null,"abstract":"<div><div>Accurate identification of vaginal fluid is imperative for forensic investigations, particularly in resolving sexual assault cases. Body fluid-specific microbiota are considered potential indicators for identifying body fluids. In this study, we selected vaginal core bacteria based on species level and developed a multiplex PCR system for identifying vaginal fluid in various individual states and mixed stains. This system was validated using a set of 350 samples (245 vaginal samples and 105 other body fluid samples). The system demonstrated high sensitivity, stability against inhibitors, and strong species specificity, showing that saliva and skin swabs were not misidentified as vaginal fluid. Menstrual blood and vaginal fluid exhibited extremely similar identification results. Further validation of individual factors showed that the system was applicable to vaginal samples from female individuals across diverse geographical regions, with varying health statuses and sexual practices. Moreover, the system effectively identified vaginal fluid components in all simulated mixed samples and successfully analyzed aged vaginal samples from actual sexual assault cases. In conclusion, this multiplex PCR system provides a promising tool for the forensic identification of vaginal fluid.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103304"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144177756","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":"PCR product dilution buffer for maintaining salt concentration","authors":"Ju Yeon Jung,&nbsp;Hee-Yeon Park,&nbsp;Eunhye Kim,&nbsp;Yeon Woo Song,&nbsp;Sang Cheul Shin","doi":"10.1016/j.fsigen.2025.103306","DOIUrl":"10.1016/j.fsigen.2025.103306","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"78 ","pages":"Article 103306"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144169751","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":"Genome-wide DNA methylome profiling to differentiate monozygotic twins","authors":"Mun-Jeong Cho ,&nbsp;Seung-Jin Park ,&nbsp;Hwan Young Lee ,&nbsp;Jong-Lyul Park ,&nbsp;Seung Mi Lee ,&nbsp;Jae-Yoon Kim ,&nbsp;So-Yeon Lee ,&nbsp;Seon-Young Kim ,&nbsp;Jong Kwan Jun ,&nbsp;Soong Deok Lee","doi":"10.1016/j.fsigen.2025.103307","DOIUrl":"10.1016/j.fsigen.2025.103307","url":null,"abstract":"<div><div>In the current forensic environment, short tandem repeat (STR) profiling originating from genomic differences is highly accurate and widely used to identify individuals. However, if the person of interest is a monozygotic (MZ) twin, his or her DNA profile is identical to that of his or her twin; thus, STR profiling cannot discriminate between them. Therefore, DNA methylation, which is known to have different patterns even in MZ twins, has attracted attention as a promising marker to differentiate MZ twins. These epigenetic patterns are affected by environmental factors and age, and distinct DNA methylation patterns have been observed among the three types of MZ twins, i.e., dichorionic-diamniotic, monochorionic-diamniotic, and monochorionic-monoamniotic. To compare DNA methylation profiles among these three types of MZ twins and identify common markers to differentiate MZ twins, we collected cord blood samples from 54 pairs of MZ twins and analyzed their DNA methylation profiles using the Human MethylationEPIC v2.0 platform. The differences in DNA methylation observed among the three types of MZ twins occurred in immune-related regions. Differentially methylated genes identified in both monochorionic-diamniotic and monochorionic-monoamniotic twins were enriched in cytokine signaling and interleukin signaling-related regions. However, differentially methylated genes in dichorionic-diamniotic twins were enriched in PPI at synapse and the neuronal system. To facilitate twin differentiation, we selected a combination of CpG sites that differed between MZ twins and validated this CpG combination in two independent cohorts comprising 118 British MZ twin pairs and 47 Korean MZ twin pairs. Additionally, these selected DNA methylation markers were evaluated in 60 independent samples of MZ twins using pyrosequencing. Our results suggest that the methylation differences observed between MZ twins at birth persist throughout life. Consequently, these CpG site combinations could serve as valuable methylation markers in forensic cases where a suspect is a MZ twin.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103307"},"PeriodicalIF":3.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144194639","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":"On forensic likelihood ratios from low-coverage sequencing","authors":"Feriel Ouerghi ,&nbsp;Dan E. Krane ,&nbsp;Michael D. Edge","doi":"10.1016/j.fsigen.2025.103302","DOIUrl":"10.1016/j.fsigen.2025.103302","url":null,"abstract":"<div><div>Advances in sequencing technology are allowing forensic scientists to access genetic information from increasingly challenging samples. A recently published computational approach, <span>IBDGem</span>, analyzes sequencing reads, including from low-coverage samples, in order to arrive at likelihood ratios for human identification. Here, we show that likelihood ratios produced by <span>IBDGem</span> are best interpreted as testing a null hypothesis different from the traditional one used in a forensic genetics context. In particular, <span>IBDGem</span> tests the hypothesis that the sample comes from an individual who is included in the reference database used to run the method. This null hypothesis is not generally of forensic interest, because the defense hypothesis is not typically that the evidence comes from an individual included in a reference database. Moreover, the computed likelihood ratios can be much larger than likelihood ratios computed for the more standard forensic null hypothesis, often by many orders of magnitude, thus potentially creating an impression of stronger evidence for identity than is warranted. We lay out this result and illustrate it with examples and simulations. As one illustrative example, in a pathological case in which the sequencing error rate is assumed to be zero, if the obtained reads display at least one inconsistency with each member of the reference database, then the likelihood ratio entails a division by zero. We give suggestions for directions that might lead to likelihood ratios that test the typical defense hypothesis.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103302"},"PeriodicalIF":3.2,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221111","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}