Forensic Science International-Genetics最新文献

{"title":"Improved deconvolution of sequenced based mixtures by extending EuroForMix","authors":"Ø. Bleka ,&nbsp;J. González-Bao ,&nbsp;M. de la Puente ,&nbsp;P. Gill","doi":"10.1016/j.fsigen.2026.103479","DOIUrl":"10.1016/j.fsigen.2026.103479","url":null,"abstract":"<div><div>We present an extension of the EuroForMix model to improve genotype prediction for unknown contributors in Massively Parallel Sequencing (MPS) mixture data by incorporating marker amplification efficiency (MAE) parameters. The proposed two-step procedure first estimates MAE directly from the tested mixture profile and then treats these estimates as fixed inputs to the extended EuroForMix model, allowing the remaining parameters to be inferred as in the original framework. This eliminates the need for external calibration data. Fully joint inference is theoretically appealing but computationally impractical for large MPS panels; the two-step strategy offers a tractable alternative. We evaluated four approaches for estimating MAE: two empirical methods, which are susceptible to overfitting, and two Bayesian methods that apply shrinkage to mitigate this. For the Bayesian variants, variational inference was employed to obtain accurate posterior MAE estimates, enabling efficient analysis of profiles with thousands of markers. Predictive performance was assessed using five DNA mixture datasets containing either 2- or 3-person mixtures, without conditioning on any of the contributing profiles. Four were based on MPS data: two SNP datasets (one high-density with ∼10,000 markers and one with ∼100 markers), one microhaplotype (MH) dataset, and one STR dataset. The fifth dataset comprised capillary electrophoresis (CE) STR data. Performance was evaluated using Brier score, accuracy and calibration, where the latter reflects how well prediction probabilities can be trusted. For practical forensic relevance, we also applied a high-certainty prediction threshold (p ≥ 0.95) and calculated the corresponding coverage and accuracy. Across all datasets, the MAE-based methods improved genotype prediction compared to the default EuroForMix model, with largest gain observed for the MPS datasets. Empirical approaches produced more decisive predictions and higher high-certainty coverage, whereas Bayesian approaches yielded more conservative and better-calibrated probabilities. Improvement for CE-STR data was modest. The binned version of EuroForMix provided a competitive alternative, particularly for high-density SNP panels.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103479"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147380180","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":"The future of forensic DNA databases and tools","authors":"Martin Bodner,&nbsp;Vania Pereira,&nbsp;Mikkel Meyer Andersen,&nbsp;Kristiaan Johannes van der Gaag,&nbsp;Nicole Huber,&nbsp;Peter Resutik,&nbsp;Sascha Willuweit,&nbsp;Walther Parson","doi":"10.1016/j.fsigen.2026.103490","DOIUrl":"10.1016/j.fsigen.2026.103490","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103490"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494709","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":"Retraction notice to “Population genetics of 17 Y-STR loci in Xibe ethnic minority from Liaoning Province, Northeast China” [Forensic Sci. Int.: Gen. 16 (2015) 86–87]","authors":"Fei Guo ,&nbsp;Lu Zhang ,&nbsp;Xianhua Jiang","doi":"10.1016/j.fsigen.2026.103473","DOIUrl":"10.1016/j.fsigen.2026.103473","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103473"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461462","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":"Retraction notice to “Genetic population data of Yfiler Plus kit from 1434 unrelated Hans in Henan Province (Central China)” [Forensic Sci. Int.: Genet. 22 (2016) e25–e27]","authors":"Lei Wang ,&nbsp;Fang Chen ,&nbsp;Bing Kang ,&nbsp;Hong Zheng ,&nbsp;Yunlong Zhao ,&nbsp;Li Li ,&nbsp;Zhaoshu Zeng","doi":"10.1016/j.fsigen.2026.103450","DOIUrl":"10.1016/j.fsigen.2026.103450","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103450"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461342","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":"Assessing the impact of bone type on the accuracy of methylation-based forensic age estimation","authors":"Charlotte Sutter,&nbsp;Cordula Haas,&nbsp;Jacqueline Neubauer","doi":"10.1016/j.fsigen.2026.103459","DOIUrl":"10.1016/j.fsigen.2026.103459","url":null,"abstract":"<div><div>Methylation-based forensic donor age estimation is an emerging field in forensic genomics. It can be used not only to estimate the age of a living person, but also to determine age-at-death of an unknown corpse or skeleton. Therefore, age estimation tools suitable for bone samples have been developed in recent years. As commonly known, methylation profiles differ considerably between different sample types. However, it is unclear whether different types of bones display different methylation patterns and whether exposure to forensically relevant environmental conditions affects bone methylation.</div><div>In this study, we used the VISAGE enhanced age estimation tool for bones to estimate the age of freshly collected bone samples from 30 individuals. Five bone types (rib, femur, clavicle, iliac crest and petrous bone) were analysed for each individual. While we found high overall age estimation errors with this tool (MAE = 9.79 years, mean error = −7.25 years), only the petrous bones displayed statistically significantly different age estimation errors compared to at least one of the other four bone types. As is commonly necessary when adapting a methylation-based assay in different laboratories, a linear transformation between predicted and chronological age was applied to calibrate the estimates to our cohort, which led to an improved overall MAE of 7.03 years. In addition, this study mimicked casework samples by exposing the femur samples of the cohort to burying, submersion in water or burning. From the mock casework samples, only 12 produced a result with an MAE of approximately 10–15 years using the transformation model. Finally, two actual casework samples were analysed. Although it was technically possible to generate an age estimate, the results obtained with the transformation model deviated considerably from the chronological ages (estimation error of 10 and 29 years, respectively).</div><div>We concluded that it is generally possible to estimate age-at-death from bone material through DNA methylation analysis when the bone material is fresh. However, under forensically relevant conditions, it might be difficult to obtain reliable age estimation results.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103459"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147380226","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":"Mutation or uniparental disomy? Evaluating abnormal inheritance patterns using Object-Oriented Bayesian Networks","authors":"Eduardo Avila ,&nbsp;Cássio Ritzel ,&nbsp;Márcio Dorn ,&nbsp;Clarice S. Alho ,&nbsp;Alessandro Kahmann","doi":"10.1016/j.fsigen.2026.103447","DOIUrl":"10.1016/j.fsigen.2026.103447","url":null,"abstract":"<div><div>Current methods of analysis in paternity testing are often based on the assumption that most incompatibilities observed between the child and the parents genetic profiles have a paternal origin. In addition, many inconsistencies are commonly treated as a product of slippage mutational events, and this premise is considered when evaluating the statistical result. Recent high-density genotype data suggest that uniparental disomy (UPD) has a higher frequency of occurrence than previously believed. Therefore, the possibility of UPD must be considered when likelihood ratios (LR) for paternity hypotheses are calculated, especially in cases where mutation events are incompatible with stepwise STR mutation models. This work proposes a statistical framework for the evaluation of paternity trio results based on Object-Oriented Bayesian Networks (OOBN) models, simultaneously considering the possibility of abnormal inheritance patterns such as mutational events and UPD. An OOBN was designed for this task using the software <em>GeNIe Academic</em>. A computational tool was then programmed using the <em>python</em> language, using <em>pmgpy</em> package as backend. Three million simulated paternity trios evidence, comprising all inheritance patterns modeled by the network, were used to test the model and evaluate its capacity to identify and distinguish mutation and UPD events. The proposed method can successfully assess LR values for paternity hypotheses, including statistical treatment of mutation and UPD events. For UPD occurrences, STR markers located on a single chromosome account for a unique Paternity Index (PI) value, avoiding the underestimation of paternity probability resulting from multiple mutation events. The model provides LRs to estimate the probability of occurrence of mutation or UPD based on population frequencies and case-related genetic data. All three types of UPD are included in the model, and the probability of each is provided, given the evidence. Finally, the developed computational tool can be used to process large datasets, allowing scalability of evidence inclusion and evaluation process. The proposed model provides a useful method to evaluate genetic parentage testing data when discrepancies in observed evidence might be a result of atypical inheritance situations. The statistical results are unbiased towards the paternal origin of incompatibilities and are particularly useful when results are not compatible with commonly adopted STR stepwise mutation models.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103447"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147313677","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":"Retraction notice to “Population genetics of 17 Y-STR loci in a large Chinese Han population from Zhejiang Province, Eastern China” [Forensic Sci. Int. Genet. 5 (2011) e11–e13]","authors":"Weiwei Wu ,&nbsp;Lipeng Pan ,&nbsp;Honglei Hao ,&nbsp;Xiaoting Zheng ,&nbsp;Jinfeng Lin ,&nbsp;Dejian Lu","doi":"10.1016/j.fsigen.2026.103453","DOIUrl":"10.1016/j.fsigen.2026.103453","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103453"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461456","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":"Assessing the resolution of extended pedigrees using hybridization capture SNP panels: Evidence from real and simulated data","authors":"Tiantian Shan ,&nbsp;Zhigang Mao ,&nbsp;Haoyu Wang ,&nbsp;Yifan Wei ,&nbsp;Jiarong Zhang ,&nbsp;Tingyun Hou ,&nbsp;Jiawen Li ,&nbsp;Chu Wang ,&nbsp;Yuntian Jin ,&nbsp;Yuhao Zhang ,&nbsp;Qiang Zhu ,&nbsp;Ming Ni ,&nbsp;Ji Zhang","doi":"10.1016/j.fsigen.2026.103478","DOIUrl":"10.1016/j.fsigen.2026.103478","url":null,"abstract":"<div><div>Accurate inference of distant biological relationships remains challenging in forensic genetics. Here, we evaluated a hybridization capture SNP panel for high-resolution pairwise kinship analysis using two extended Han Chinese pedigrees (93 individuals, first to sixth degree). A total of 6049 high-quality autosomal SNPs were obtained, and kinship inference was performed using LR-based and IBS-based methods. Simulations showed that both SNP number and allele polymorphism strongly affected discrimination power, with ≥ 16,000 SNPs enabling near-complete resolution of third- and fourth-degree relatives. In real pedigrees, a panel of 6049 SNPs achieved inference accuracies of 99.69%, 98.26%, and 92.12% for third-, fourth-, and fifth-degree relationships, respectively (log₁₀LR &gt; 0). Genotyping remained robust with 100 pg of input DNA (95% accuracy), supporting applicability to trace forensic samples. Overall, hybridization capture SNP sequencing offers an effective and scalable strategy for extended kinship analysis, with performance further enhanced by expanded high-MAF marker sets.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103478"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147386393","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":"Retraction notice to “Population data of 17 Y-STR loci in Nanyang Han population from Henan Province, Central China” [Forensic Sci. Int.: Genet. 13 (2014) 145–146]","authors":"Yanyan Yang ,&nbsp;Wanliu Yuan ,&nbsp;Fei Guo ,&nbsp;Xianhua Jiang","doi":"10.1016/j.fsigen.2026.103458","DOIUrl":"10.1016/j.fsigen.2026.103458","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103458"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461428","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":"Retraction notice to “Population genetics for 17 Y-STR loci in Korean ethnic minority from Liaoning Province, Northeast China” [Forensic Sci. Int. Genet. 22 (2016) e9-e11]","authors":"Fei Guo,&nbsp;Liqu Song,&nbsp;Longnian Zhang","doi":"10.1016/j.fsigen.2026.103472","DOIUrl":"10.1016/j.fsigen.2026.103472","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103472"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461426","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}