Forensic Science International-Genetics最新文献

{"title":"An evaluation of molecular and statistical methods for the attribution of body fluid sources to donors","authors":"Anika Nina Correll Trnka ,&nbsp;Rebecca Richards ,&nbsp;Stephanie Opperman ,&nbsp;SallyAnn Harbison","doi":"10.1016/j.fsigen.2026.103455","DOIUrl":"10.1016/j.fsigen.2026.103455","url":null,"abstract":"<div><div>Attributing mixed biological materials in crime stains to individual donors remains a challenge in forensic science. Characterisation of the messenger RNA (mRNA) transcripts in a biological material can be used for body fluid identification (BFID) purposes. Comparing coding region single nucleotide polymorphisms (cSNPs) in mRNA transcripts obtained from crime stains to reference cSNP profiles from known individuals presents a way to assign biological materials to donors. In this study, saliva, blood, skin, and vaginal samples were collected from eleven participants. Based on previous studies, a sequencing assay was designed targeting 23 cSNPs in single source gDNA and RNA samples to determine the potential of using Illumina MiSeq sequencing technology for BFID and donor association with cSNPs. Promising results were obtained from this preliminary study. The RNA samples displayed expression patterns typical of the biological materials they were sourced from. The expression results were investigated with principal component analysis (PCA) and incorporated into a Bayesian Network (BN) for statistical interpretation, with encouraging results. Variant calling of cSNPs had modest success. While the results showed potential for donor association, the discriminatory power and sequencing quality of some RNA transcripts limit donor attribution prospects, especially for the saliva and skin samples.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103455"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146260538","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":"HipSTR-UI: A cross-platform graphical interface for accessible str genotyping from next-generation sequencing data","authors":"Tamara Soledad Frontanilla ,&nbsp;Matheus de Sousa Ferrari ,&nbsp;Jesus Ayala ,&nbsp;Celso Teixeira Mendes-Junior","doi":"10.1016/j.fsigen.2026.103456","DOIUrl":"10.1016/j.fsigen.2026.103456","url":null,"abstract":"<div><div>Next-generation sequencing (NGS) has expanded the scope of forensic genetics by providing sequence-level resolution of Short Tandem Repeats (STRs). We developed HipSTR-UI, a cross-platform graphical interface that integrates precompiled HipSTR binaries for Windows, macOS, and Linux. The interface automates the genotyping workflow, from alignment files (BAM/CRAM) and target regions with the reference genome (FASTA) to the generation of genotypes in VCF format. HipSTR-UI includes a graphical parameter panel and exportable results. The validation was performed using Phase 3 of the 1000 Genomes Project, previously analyzed with the HipSTR command-line version. HipSTR-UI accurately reproduced the results of HipSTR, achieving 100 % concordance in genotype calls. As expected, no discrepancies were observed in concordance rates, discordant loci, or quality scores, since the interface executes the same commands as the original HipSTR tool. HipSTR-UI combines the robustness of HipSTR with a user-friendly and multilingual interface, bridging the gap between advanced sequencing technologies and routine forensic applications. Additionally, it facilitates adoption in routine forensic workflows, including human identification and kinship analysis.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103456"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146777132","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":"Comparative evaluation of SNP sequencing workflows for identification of the missing in Vietnam","authors":"Bethany K. Forsythe ,&nbsp;Bas van Haperen ,&nbsp;Lisa Vangeel ,&nbsp;Kieren J. Hill ,&nbsp;Ingo Bastisch ,&nbsp;Phong H. Do ,&nbsp;Thuy T. Hoang ,&nbsp;Lucy Johnson ,&nbsp;Dung T. Le ,&nbsp;Nam N. Nguyen ,&nbsp;Chau Nguyen ,&nbsp;Linh H. Tran ,&nbsp;Vinh V. Tran ,&nbsp;Tuan A. Vu ,&nbsp;Ha H. Chu ,&nbsp;Ha Hoang ,&nbsp;Thanh T. Tran ,&nbsp;Thomas J. Parsons","doi":"10.1016/j.fsigen.2026.103448","DOIUrl":"10.1016/j.fsigen.2026.103448","url":null,"abstract":"<div><div>Hundreds of thousands of remains are still unidentified following the 1955–1975 conflict in Vietnam. DNA identification is increasingly challenging due to extreme degradation of remaining DNA, a large amount of contaminating microbial DNA, and a growing reliance on distant relatives to provide reference samples for comparison. Although mitochondrial DNA is easier to recover than nuclear DNA, by itself it does not have the discriminatory power needed for large-scale identifications. Standard nuclear short tandem repeat (STR) profiling is not an option due to degradation. Instead, massively parallel sequencing (MPS) and its ability to target thousands of single nucleotide polymorphisms (SNPs) must be considered. This paper presents a direct comparison of three targeted SNP sequencing workflows for the identification of highly degraded Vietnamese skeletal remains. Two pre-existing forensic identification mid-density SNP panels were selected for evaluation: the MPSplex panel and the FORCE panel. Both panels are available with library preparation workflows that have the potential of targeting and enriching SNPs from fragmented DNA: QIAseq single primer extension (FORCE and MPSplex panel) and hybridization capture (FORCE panel). Fifteen bone samples from fifteen sets of unidentified Vietnamese skeletal remains of varying quality were processed using three workflows (MPSplex and FORCE using a modified QIAseq protocol and FORCE using hybridization capture) to compare their performance. Family reference genotypes were simulated to estimate the theoretical identification power and performance of the workflows for each sample. All three workflows resulted in SNP profiles that would theoretically support identifications using at least a single first degree relative and up to a single fourth degree relative, from most of the 15 bone samples. The FORCE-Capture workflow had the highest performance based on SNP recovery and theoretical identification power, while FORCE-QIAseq had the lowest. The MPSplex-QIAseq workflow performed similarly to FORCE-Capture with respect to the percentage of targeted SNPs recovered per sample, however, the larger number of SNPs targeted by the FORCE panel appears to outweigh the advantage of the tri-allelic SNPs targeted by the MPSplex-QIAseq workflow. These findings demonstrate that the targeted sequencing of SNPs when combined with optimised, sensitive library preparation techniques, offers a viable path forward in the identification of the missing in Vietnam.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103448"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147286636","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":"Contextual DNA samples in evaluations given activity level propositions","authors":"Yoram R. Goedhart ,&nbsp;Jan A. de Koeijer ,&nbsp;Lambertus H.J. Aarts ,&nbsp;Christianne J. de Poot ,&nbsp;Bas Kokshoorn","doi":"10.1016/j.fsigen.2026.103452","DOIUrl":"10.1016/j.fsigen.2026.103452","url":null,"abstract":"<div><div>Recent years have shown a growing effort in the evaluation of DNA given activity level propositions. Yet, its implementation remains challenging for forensic scientists due to the complexity of assessing relevant DNA TPPR mechanisms. One particular challenge is the sparsity of relevant experimental data in general and their applicability in the context of the case at hand. This difficulty is most apparent when considering the presence and quantity of prevalent and background DNA as the variables affecting them are highly specific and case-dependent, complicating their assessment based on literature data alone. It would hence be advantageous to assess prevalent and background DNA using information specific to the case, ideally gathered at the crime scene. We introduce the concept of contextual sampling: the targeted collection of additional samples from the surroundings of crime-related items to assign probabilities on prevalence and background based on case-relevant data. We identify several categories of contextual samples and demonstrate how these can inform sampling strategies and be integrated into Bayesian networks. Our findings show how contextual sampling allows for case-specific probability assignment, thereby reducing dependence on less-representative literature data. We also address practical considerations – including sample number, sampling location, and analytical strategy – and discuss limitations such as resource demands and uncertainties tied to small sample sizes. We conclude that contextual samples can be collected in anticipation of relevant alternative scenarios. This will provide forensic scientists with a valuable tool for casework, offering more nuanced and case-specific evaluations given activity level propositions. Further research could address operational protocols to optimize its implementation in forensic practice.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103452"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146228695","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 polymorphisms of 17 Y chromosomal STRs in She and Manchu ethnic populations from China” [Forensic Sci. Int.: Genet. 22 (2016) e12–14]","authors":"Rufeng Bai ,&nbsp;Yaju Liu ,&nbsp;Xiaojiao Lv ,&nbsp;Meisen Shi ,&nbsp;Shuhua Ma","doi":"10.1016/j.fsigen.2026.103449","DOIUrl":"10.1016/j.fsigen.2026.103449","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103449"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461367","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 Mongolian ethnic minority from Liaoning Province, Northeast China” [Forens. Sci. Int. Genet. 17 (2015) 153–154]","authors":"Fei Guo","doi":"10.1016/j.fsigen.2026.103475","DOIUrl":"10.1016/j.fsigen.2026.103475","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103475"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461463","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":"Characterizing DNA mixtures with Demixtify","authors":"August E. Woerner ,&nbsp;Benjamin Crysup ,&nbsp;Michael D. Coble","doi":"10.1016/j.fsigen.2026.103451","DOIUrl":"10.1016/j.fsigen.2026.103451","url":null,"abstract":"<div><div>Driven largely by forensic investigative genetic genealogy, whole genome sequencing (WGS) technologies are undergoing rapid adoption by the forensic community. While many tools for interpreting WGS data are readily drawn from the medical genomics communities, software for evaluating DNA mixtures is notably lacking, especially with low-quantity samples. We present Demixtify, a tool for detecting and characterizing DNA mixtures. Genetic analyses were conducted considering a broad range of population groups, coverages and mixture proportions (MPs). These analyses show that estimation of the MP is sensitive to the source population, but mixture detection (down to 0.01×) is less sensitive to these effects. Careful selection of genetic markers can mitigate the effects of population demographics on proportion estimation.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103451"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146777141","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":"MatchY in practice: Factors influencing pedigree-based Y-STR match probabilities","authors":"Dion Zandstra ,&nbsp;Amke Caliebe ,&nbsp;Mohsen Ghanbari ,&nbsp;Michael Krawczak ,&nbsp;Manfred Kayser ,&nbsp;Arwin Ralf","doi":"10.1016/j.fsigen.2026.103522","DOIUrl":"10.1016/j.fsigen.2026.103522","url":null,"abstract":"<div><div>While widely applied in forensic practice, equating Y-STR match probabilities with haplotype frequencies derived from population databases has been considered inappropriate, as these databases cannot be representative of each and every case-specific suspect population. To address this inherent limitation of the forensic application of Y-STRs, we previously introduced a mathematical framework for calculating Y-STR match probabilities based on the suspect’s male pedigree. Recently, we extended and implemented this framework in the publicly available MatchY software tool, which allows users to calculate match probabilities for any Y-STRs with known mutation rates and for pedigrees of varying size and complexity. Here, we present a comprehensive exploration of marker and pedigree-based factors impacting the Y-STR match probability outcomes obtained with MatchY. Moreover, we introduce another application of MatchY, the <em>trace mode</em>, aimed at forensic intelligence rather than evidential value computation. These insights provide valuable guidance on the practical use of MatchY for calculating Y-STR match probabilities in routine forensic casework for cases both with and without suspects.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"84 ","pages":"Article 103522"},"PeriodicalIF":3.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148038608","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":"When DNA leads the way: The introduction of Forensic Investigative Genetic Genealogy in Sweden and its first use in Europe","authors":"Siri Aili Fagerholm ,&nbsp;Ricky Ansell ,&nbsp;Andreas Tillmar","doi":"10.1016/j.fsigen.2026.103432","DOIUrl":"10.1016/j.fsigen.2026.103432","url":null,"abstract":"<div><div>This paper details the first successful use of Forensic Investigative Genetic Genealogy (FIGG) in Europe, which was applied to identify a double murder perpetrator in a 16-year-old unsolved case. By integrating advanced SNP typing with genetic genealogy methods, conclusive leads were generated beyond the reach of conventional forensic approaches. By using this case as an illustrative example, we describe how FIGG can expand the forensic toolkit, reshape investigative as well as forensic strategies, and enable resolution in long-standing unsolved cases. We also reflect on how this case highlights the need to balance technical progress in forensic genetics with legal, social, and ethical aspects. Finally, we outline the journey initiated with this successful pilot case to the structured implementation of FIGG as an operational tool within the Swedish Law Enforcement.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"83 ","pages":"Article 103432"},"PeriodicalIF":3.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146049172","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":"Probabilistic genotyping of non-human DNA mixtures: Using MaSTR™ to analyze mixed canine STRs genotyped with DogFiler","authors":"Samantha L. Badgett ,&nbsp;Teresa M. Tiedge ,&nbsp;Taylor B. Parker ,&nbsp;Kim R. Love ,&nbsp;Natalie K. Flack ,&nbsp;Kelly A. Meiklejohn","doi":"10.1016/j.fsigen.2026.103436","DOIUrl":"10.1016/j.fsigen.2026.103436","url":null,"abstract":"<div><div>Individualization in forensic science is commonly achieved by typing short tandem repeats (STRs). Interpretation of resulting electropherograms can be challenging when the input DNA was low quantity, low quality or a mixture of two or more individuals. Probabilistic genotyping (PG) – application of mathematical models and algorithms to analyze mixed STR profiles – tools have been developed to compute a likelihood ratio that an individual is a contributor, and/or deconvolute the mixed profile into single source genotypes. While PG software has been widely implemented in human forensic laboratories, wildlife forensic laboratories have been slow to adopt given a) separate validations would be needed for each STR panel in use, and b) access to and selection of relevant population data needed for analysis could be challenging. This study looked to complete the first evaluation of PG software for the analysis of non-human STR mixtures. We utilized a continuous PG software, MaSTR™ (SoftGenetics), that permits the creation of a model for a non-human STR panel. Artificial mixtures of domestic dog were prepared at varied ratios and genotyped with the published DogFiler STR panel: 1) unrelated two individual (n = 12) and three individual (n = 3) mixtures, with varying degrees of allele sharing, and 2) related individuals (mother and offspring; n = 2) with high allele sharing. For each mixture, true contributor single source profiles were provided to MaSTR™ under varying propositions to assess the impact on the computed likelihood ratio (LR). Additionally for a subset of unrelated two-individual mixtures (n = 6), analyses with true non-contributors were completed to assess false inclusion rates. For replicate analyses (n = 5) on the same mixed profile, the coefficient of variation in the LogLR was 1.83 % and 2.42 %, for two-and three-individual mixtures, respectively. The overall false exclusion rate of true contributors was 0.43 % (LogLR &lt; 6), and the false inclusion rate with true non-contributors was 0 % (LogLR &gt; 6). Despite nearly half of the mixtures tested consisting of individuals with high levels of allele sharing, MaSTR™ was able to complete the analysis and give the expected result (inclusion or exclusion) regardless of the mixture ratio. These results provide promise for use of MaSTR™ (and PG more generally) in wildlife forensic casework. Laboratories interested in implementing PG will need to complete necessary validations and ideally include in testing STR profiles generated from adjudicated case samples, which was outside the scope of this study.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"83 ","pages":"Article 103436"},"PeriodicalIF":3.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081589","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}