Forensic Science International-Genetics最新文献

{"title":"A robust cross-tissue DNA methylation model for forensic age estimation from oral samples","authors":"Yuzhu Liu,&nbsp;Maomin Chen,&nbsp;Ya Li,&nbsp;Liqi Wang,&nbsp;Aoyun Du,&nbsp;Yujia Lin,&nbsp;Shaohua Yi,&nbsp;Chao Xiao,&nbsp;Daixin Huang","doi":"10.1016/j.fsigen.2025.103331","DOIUrl":"10.1016/j.fsigen.2025.103331","url":null,"abstract":"<div><div>DNA methylation-based chronological age estimation is a powerful forensic tool, but its application to commonly encountered oral-derived samples (e.g., buccal swabs, saliva) is hampered by tissue specificity and inherent cellular heterogeneity, often leading to inaccurate predictions with existing models. This study aimed to overcome these limitations by developing and validating a robust cross-tissue DNA methylation model for forensic age estimation from such samples. We quantified DNA methylation at 18 CpG sites in 216 paired buccal swab and saliva samples (Han Chinese, 2–83 years) and systematically evaluated 32 model configurations—varying CpG marker panels, age transformation, and tissue variable inclusion—to identify markers with high cross-tissue stability and optimize predictive accuracy. An optimized 10-CpG quantile regression model achieved mean absolute errors (MAEs) of 3.19 years (buccal swabs), 3.44 years (saliva), and 3.45 years (combined dataset) in 10-fold cross-validation. Crucially, this model demonstrated excellent performance on an independent validation set of forensically relevant chewed gum samples (<em>n</em> = 25, aged 19–70 years; MAE = 3.29 years). The model also maintained reliable performance with bisulfite-converted DNA inputs as low as 5 ng and remained stable after 31 days of uncontrolled environmental storage. Our findings establish a methodologically sound and practically validated cross-tissue approach for forensic age estimation from diverse oral samples, offering a reliable solution to the challenges of tissue variability and cellular heterogeneity in real-world casework.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"80 ","pages":"Article 103331"},"PeriodicalIF":3.2,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144714360","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 novel approach to combine qPCR and STR amplification for DNA profiling","authors":"Caitlin McDonald ,&nbsp;Duncan Taylor ,&nbsp;Russell Brinkworth ,&nbsp;Adrian Linacre","doi":"10.1016/j.fsigen.2025.103332","DOIUrl":"10.1016/j.fsigen.2025.103332","url":null,"abstract":"<div><div>An initial step in the development of a smart PCR machine, capable of amending the cycling parameters when amplifying STR alleles, is to monitor PCR progression in real-time. Performing qPCR allows for the real-time monitoring and recording of amplification of control loci: comprised of a small and large amplicon, a positive control, and a section of the Y chromosome. This qPCR data enables the recording of degradation and inhibition, as the fluorescence during qPCR theoretically should follow an exponential increase. Hypothetically, combining qPCR with STR amplification would allow real-time quantification of fluorescence such that the parameters of the PCR could be modified to optimise STR amplification: fluorescence below expectation would indicate a need to amend the PCR parameters to improve the DNA amplification. In this study, two different commercially available qPCR kits were combined separately with one of four different STR kits, and the resulting STR profile quality was recorded. Controls were performed by amplifying the same quantity of DNA template for each of the four STR kits, with all standard single and combined amplifications performed five times, resulting in 60 amplifications in total. No significant decrease in profile quality or likelihood ratios were recorded for any of the combinations. There were no adverse effects on the STR amplification when performed on a real-time PCR machine, despite two different enzymes and the presence of additional primers requiring differing temperatures to bind. These data are needed as the first step towards a smart PCR machine that can adjust cycling parameters in real-time.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"80 ","pages":"Article 103332"},"PeriodicalIF":3.2,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144714359","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":"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}