Forensic Science International-Genetics最新文献

{"title":"Independent validation of the VISAGE enhanced tool for age prediction in Koreans and analysis of platform transition","authors":"Moon Hyun So ,&nbsp;Soo-Bin Yang ,&nbsp;Ji Eun Lee ,&nbsp;Jeong Min Lee ,&nbsp;Hwan Young Lee","doi":"10.1016/j.fsigen.2025.103346","DOIUrl":"10.1016/j.fsigen.2025.103346","url":null,"abstract":"<div><div>Age prediction based on DNA methylation is emerging as a pivotal topic in forensic genetics, providing crucial information for criminal investigations. The Europe-based VISible Attributes Through GEnomics (VISAGE) Consortium recently reported a series of age prediction models by analyzing blood, buccal cells, and bone DNA using the Massively Parallel Sequencing (MPS) method, demonstrating high prediction accuracy with Mean Absolute Errors (MAE) of less than 4 years. To explore population-specific differences, we replicated the VISAGE MPS-based analysis using 300 blood and 150 buccal cell DNA samples from Korean individuals. Since the VISAGE models' equations are not publicly available, we constructed new models using multiple linear regression at the same CpG sites. Despite differences in the ranking of age-correlated CpG markers, our newly developed blood age model for Koreans exhibited a comparable MAE (3.4 years) to the VISAGE blood model (MAE of 3.2 years), whereas our buccal cell model demonstrated a slightly higher MAE (4.3 years) compared to the VISAGE buccal cell model (MAE of 3.7 years). Furthermore, to facilitate broader application across platforms, we developed additional models using the SBE method and conducted a comparative analysis of methylation levels with those obtained by the MPS method. This comparison revealed significant inter-platform differences (<em>p-</em>value &lt;0.05) in methylation levels across all CpG sites included in VISAGE blood and buccal cell models. To address this issue, we developed platform-independent models by calibrating methylation levels using 11 control DNAs with varying methylation ratios (0 %-100 %). Although the calibrated data still exhibited statistically significant differences between platforms, the platform-independent model for blood achieved high prediction accuracy, with an MAE of 3.6 years. However, the buccal cell model displayed lower accuracy and still showed inter-platform variations, indicating that the calibration method is affected differently by CpG sites. Additionally, we optimized age prediction models for Koreans by employing various regression methods to the Korean MPS dataset. Both blood and buccal cell models achieved high age prediction accuracies, with MAEs below 3.4 years and 4.2 years, respectively. In conclusion, our study underscores the importance of considering both biological and technical factors in developing reliable DNA methylation-based forensic models.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103346"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144902629","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":"An Integrated proteomic workflow for body fluid classification and single amino acid variant identification: Advancing towards body fluid source attribution","authors":"Thomas P. Shehata ,&nbsp;Shirin Alex ,&nbsp;Stijn N.C. van Lierop ,&nbsp;Maarten J. Blom ,&nbsp;Jantine van de Wetering -Tieleman ,&nbsp;Nadine Prust ,&nbsp;Jeroen Demmers ,&nbsp;Marcel de Puit","doi":"10.1016/j.fsigen.2025.103343","DOIUrl":"10.1016/j.fsigen.2025.103343","url":null,"abstract":"<div><div>A particularly challenging subject in the investigation of forensic human biological traces is analyzing samples containing mixtures of body fluids from multiple donors. Ideally, researchers want to identify each type of body fluid present. However, traditional methods, like mRNA and DNA profiling, often struggle with sensitivity, specificity, and efficiency, especially in complex mixtures. This proof-of-concept study has two primary aims: first, to classify body fluids within a mixture using discriminatory protein markers, and second, to evaluate the feasibility of using single amino acid variants (SAAVs) to trace the source of specific body fluids back to individual donors. To achieve this, we employed proteomic analysis via liquid chromatography-tandem mass spectrometry (LC-MS/MS) in data-independent acquisition (DIA) mode, developing a reliable approach for accurate body fluid classification. Through comprehensive proteomic profiling, we characterized a diverse array of discriminatory proteins present in peripheral blood, semen, saliva, urine, and vaginal fluid. Using advanced data analysis techniques, including t-distributed stochastic neighbor embedding (t-SNE), we demonstrated that these proteins could reliably distinguish between different body fluids, even in mixed samples. Additionally, our findings reveal that SAAVs within certain proteins, such as those in saliva, hold promise for source attribution in a forensic context. Challenges, including contamination and limited sample sizes, highlighted the need for strict quality controls and further large-scale studies. With these improvements, proteomic analysis could greatly enhance body fluid identification, classification, and source attribution in forensic investigations, improving both accuracy and reliability in forensic science.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103343"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144902630","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":"Statistical interpretation of cases involving mixtures: A Spanish and Portuguese-Speaking Working Group (GHEP-ISFG) collaborative exercise","authors":"Camila Costa ,&nbsp;Juan Carlos Álvarez ,&nbsp;Sofia Angeletti ,&nbsp;Sebastian Biagini ,&nbsp;Mariela Caputo ,&nbsp;Eugenia Carnevali ,&nbsp;María Ignacia Castillo ,&nbsp;Sandra Cordoba ,&nbsp;Simon Cortes Sierra ,&nbsp;María de la Puente ,&nbsp;Agustina Dorigón ,&nbsp;Oscar García ,&nbsp;Santiago Ginart ,&nbsp;Alejandra Guinudinik ,&nbsp;Carina Merino Bedmar ,&nbsp;Aline Minervino ,&nbsp;Cecilia Miozzo ,&nbsp;Ana Mosquera-Miguel ,&nbsp;Maria Eugenia Nicolotti ,&nbsp;Martina Onofri ,&nbsp;Nádia Pinto","doi":"10.1016/j.fsigen.2025.103383","DOIUrl":"10.1016/j.fsigen.2025.103383","url":null,"abstract":"<div><div>The increasing complexity of forensic genetic samples has driven the development and implementation of probabilistic genotyping software (PGS) to assist experts in quantifying the weight of evidence. A common challenge lies in quantifying the likelihood that a person of interest (PoI) is a contributor to a DNA mixture, especially in samples with low quantity and quality, stochastic effects (drop-in allele, dropout, and/or heterozygotic peaks imbalance), shared alleles, and stutter peaks. PGS can be based on either qualitative models (allele presence/absence) or quantitative (including allele peak heights) to assess the likelihood ratio, which consists of comparing the probability of observing the evidence given two hypotheses: “H1 = The PoI is a contributor to the evidence” and “H2 = The PoI is not a contributor nor genetically related to any contributor”. Key parameters included in these calculations regarding population – allele frequency distributions, and co-ancestry coefficient –, analytical factors – drop-in, dropout, analytical threshold –, and stutter presence, can influence the outcomes depending on how they are set. This collaborative exercise, organized by the Spanish and Portuguese-speaking Working Group of the International Society for Forensic Genetics, aimed to assess the current state of knowledge, use, and implementation of PGS among forensic laboratories. The goal was to evaluate how non-binary informatics tools are applied in practice and to understand the methodologies used to statistically interpret complex DNA mixtures.Participants were asked to analyze 30 pairs of samples composed of DNA mixtures (with varying the number of contributors, mixture ratios, and degradation levels) and corresponding reference profiles, selected from the PROVEDIt database. Laboratories employed different tools and approaches to quantify the evidence’s weight, including decisions regarding the number of contributors (NoC), population, laboratory, and case-specific parameters, such as coancestry coefficient, minimum allele frequency, dropout frequency, drop-in (frequency and modeling), analytical threshold, and the modeling of stutter peaks and degradation. Even though all laboratories received the same genotypic and frequency data, methodological differences led to different LR results, particularly for more complex samples with low-template and degraded DNA. The greatest differences were observed in the interplay between analytical thresholds and NoC estimation, with discrepancies amplified when alleles from minor contributors overlapped with expected stutter positions. This exercise highlights the importance of expert training and underscores the need for a comprehensive understanding of the statistical models underlying PGS. Ensuring accurate and consistent interpretation of complex DNA evidence requires not only technical proficiency but also an integrated approach to parameter selection and genotypic data evaluation.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103383"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145423677","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 hexaplex droplet digital PCR assay for DNA methylation-based age prediction from blood samples targeting ELOVL2, FHL2, and TRIM59","authors":"Rita Fakhr ,&nbsp;Un Na Koh ,&nbsp;So Eun Lee ,&nbsp;Si-Keun Lim","doi":"10.1016/j.fsigen.2025.103396","DOIUrl":"10.1016/j.fsigen.2025.103396","url":null,"abstract":"<div><div>DNA methylation analysis has emerged as a promising approach, offering valuable information in forensic investigations. This study presents the development of a hexaplex droplet digital PCR (ddPCR) assay for forensic age prediction based on three well-established age-associated markers: <em>ELOVL2</em>, <em>FHL2</em>, and <em>TRIM59</em>. The assay reliably distinguished methylation levels as low as 1 %, with no cross-reactivity or signal interference in the multiplex format. To evaluate the assay’s predictive performance, two statistical methods were used: hold-out cross-validation and 5-fold cross-validation. In both methods, all three markers showed strong correlations with chronological age. In the hold-out method, the model achieved a mean absolute error (MAE) of 2.80 years for the test set. Comparable performance was observed in 5-fold cross-validation, with an average MAE of 3.13 years. Prediction accuracy was higher in younger individuals and decreased with older age. The hexaplex assay allows all markers to be analyzed under identical experimental conditions, enhancing consistency, minimizing technical variability, and reducing reagent costs. Future work will include validation studies in accordance with the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines and application to real forensic casework to further confirm the assay’s practical utility.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103396"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145608085","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":"RPA–CRISPR–Cas12a/RPA–CRISPR–Cas12a–LFD: Two detection platforms for the rapid identification of five forensic body fluids","authors":"Yifeng Lin ,&nbsp;Yongsong Zhou ,&nbsp;Xi Yuan ,&nbsp;Xi Wang ,&nbsp;Hui Xu ,&nbsp;Fanzhang Lei ,&nbsp;Le Wang ,&nbsp;Qiong Lan ,&nbsp;Bofeng Zhu","doi":"10.1016/j.fsigen.2025.103376","DOIUrl":"10.1016/j.fsigen.2025.103376","url":null,"abstract":"<div><div>Identifying tissue source types of human peripheral blood, menstrual blood, vaginal secretion, semen, and saliva left at a crime scene can offer crucial clues for case investigation. Although messenger RNA (mRNA) profiling has become a robust tool for body fluid identification, conventional methods remain constrained by time-consuming workflows and dependence on laboratory infrastructure, hindering rapid on-site forensic analysis. To address these limitations, this study designed the RPA–CRISPR–Cas12 experiment and independently developed an RPA–CRISPR–Cas12a–LFD detection system, which achieved simple, rapid (&lt;40 min), and accurate forensic identification of five kinds of critical body fluids. Initially, we mined the Genotype–Tissue Expression database and related literatures to screen candidate mRNA markers, subsequently employed RT-qPCR to evaluate their expression levels, and applied the Boruta algorithm to optimize the number of mRNA markers, ultimately identifying five mRNA markers: HBB (peripheral blood), MMP10 (menstrual blood), DKK4 (vaginal secretion), AKAP4 (semen), and HTN3 (saliva). The developed system exhibited exceptional specificity. Furthermore, the sensitivity values of HBB, MMP10, DKK4, AKAP4, and HTN3 markers in RPA–CRISPR–Cas12 and RPA–CRISPR–Cas12a–LFD detection systems were 0.1, 0.1, 1, 0.1, 0.1 ng; and 0.1, 0.1, 1, 1 and 1 ng, respectively. Among them, the sensitivity of HBB and DKK4 markers was superior to that of previous studies. Notably, the platform successfully resolved mixed samples (excluding AKAP4 marker), and MMP10 and DKK4 markers retained detectability in aged menstrual blood and vaginal secretion samples. The proposed method provides the groundwork for further development of tissue origin identification tools of forensic body fluids, which may eventually be suitable for on-site rapid detection environments.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103376"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145362166","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":"Developmental validation of a whole genome sequencing workflow for use in a forensic laboratory","authors":"Jennifer C. Cihlar ,&nbsp;August E. Woerner ,&nbsp;Jonathan L. King ,&nbsp;Jessica Broner Hawkins ,&nbsp;Michael D. Coble","doi":"10.1016/j.fsigen.2025.103380","DOIUrl":"10.1016/j.fsigen.2025.103380","url":null,"abstract":"<div><div>The generation of large single nucleotide variant (SNV) profiles are at the forefront of the minds of many forensic practitioners, largely in response to the growing demand for forensic genetic genealogy (FGG) analyses on both missing persons and forensic cases. Current options available to laboratories today include PCR-based targeted amplification, SNV microarrays, and whole genome sequencing, each with multiple commercially available kits from which to choose. In addition to molecular considerations, bioinformatic workflows (and accompanying tools) must be constructed, validated, and implemented. To aid this process, a developmental validation study of a whole genome sequencing workflow was completed. This workflow consisted of library preparation with the KAPA HyperPrep Kit and sequencing on the NovaSeq 6000. Validation of this workflow included studies on PCR optimization, library stability, and library plexity. Sensitivity studies (ranging from 10 nanograms to 50 picograms of DNA) demonstrated the dynamic range and limit of detection. Libraries were generated by multiple individuals to allow for assessment of reproducibility. The potential for contamination was assessed through evaluation of negative controls for evidence of exogenous DNA. Finally, mock casework samples and mixtures at ratios ranging from 1:1–1:49 were sequenced to determine performance with potentially challenging samples. A portable end-to-end bioinformatic workflow (Tapir) was developed, allowing for a seamless transition from raw data from Illumina instruments (BCL) to sample genotypes in a format compatible with GEDmatch. Tapir includes various summaries of sample composition, including information on coverage (breadth and depth), duplication rates and call rates, and it supports both modern genotype imputation (i.e., genotype refinement) as well as classical genotyping techniques. The detailed breakdown of this workflow and the associated validation data will serve as an important tool in enabling the implementation of whole genome sequencing in forensic laboratories.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103380"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145472453","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":"MHappaMundi: A custom AmpliSeq microhaplotype panel for ancestry inference","authors":"Pedro Rodrigues ,&nbsp;Nádia Pinto ,&nbsp;Maria João Prata ,&nbsp;Rodrigo Flores-Espinoza ,&nbsp;Germán Burgos ,&nbsp;Hirohaki Nakanishi ,&nbsp;Jamila A. Perini ,&nbsp;Paulo Cesar Basta ,&nbsp;Claus Børsting ,&nbsp;Leonor Gusmão ,&nbsp;Vania Pereira","doi":"10.1016/j.fsigen.2025.103389","DOIUrl":"10.1016/j.fsigen.2025.103389","url":null,"abstract":"<div><div>Recent advancements in massively parallel sequencing technologies have led to the exploration of a new class of genetic markers called microhaplotypes (MHs). MHs exhibit unique characteristics that highlight their potential as viable alternatives to STRs and SNPs in addressing challenges commonly faced in forensic investigations. Different studies have detailed the development of MH panels for distinct purposes in forensics (e.g., human identification, mixture deconvolution, kinship testing, or biogeographic ancestry inference). However, MH panels with the sole purpose of ancestry inference are scarce and show some limitations that hinder a broader acceptance within the community. A new ancestry-informative MH panel, named MHappaMundi, was developed with the specific aim of differentiating Sub-Saharan African, European, South Asian, East Asian, and Native American ancestries. The selection method involved computing pairwise <em>F</em>_ST for all the MHs present in the MicroHapDB database between all pairs of continental groups, based on the 1000 Genomes Project (1kGP) populations. This approach aimed to establish a final panel ensuring balanced genetic distances between each population pair. From this selection method, 100 MHs were recruited for the panel. The performance of MHappaMundi was assessed by sequencing 147 European (Danes and Portuguese), 120 East Asian (Mainland and Okinawan Japanese), and 101 Native American (Brazilian and Ecuadorian) individuals on the Ion GeneStudio™ S5 System. A total of 8 loci were excluded due to insufficient read depth or technical inconsistencies. The final panel included 92 MHs and 466 allele-defining SNPs. Population genetic clustering was evaluated through STRUCTURE analysis, Principal Component Analysis, and Multidimensional scaling for the genotyped populations from this study and available online data from the 1kGP and Middle Eastern populations. In these analyses, the panel demonstrated great effectiveness in separating the five continental groups, particularly the Europeans and South Asians, which had presented challenges in previous MH ancestry panels. Moreover, the panel revealed an effective estimation of ancestry proportions in admixed individuals. In conclusion, the MHappaMundi serves as a potential asset for ancestry inference in forensic and population genetics.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103389"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145527927","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":"Non-destructive identification of forensically relevant body fluid stains using a portable electronic nose: A pilot study","authors":"Daijing Yu ,&nbsp;Niu Gao ,&nbsp;Tian Wang ,&nbsp;Liwei Zhang ,&nbsp;Jun Zhang ,&nbsp;Jiangwei Yan","doi":"10.1016/j.fsigen.2025.103347","DOIUrl":"10.1016/j.fsigen.2025.103347","url":null,"abstract":"<div><div>Identification of bodily fluid stains is crucial for forensic investigations. While current molecular detection methods provide high accuracy, their destructive sampling nature imposes significant limitations on trace samples by compromising sample integrity and subsequent short tandem repeat (STR) profiling. To date, no non-destructive method for fluid identification has been reported. This study introduces a novel portable electronic nose (e-nose) technology that facilitates non-invasive differentiation through the detection of volatile organic compounds (VOCs) in bodily fluids. Requiring only 3–4 min per test while preserving DNA integrity, this approach effectively distinguishes morphologically similar fluids such as blood and menstrual blood, offering an innovative solution for the non-destructive analysis of forensic body fluid. In this study, VOCs from 200 body fluid samples—including blood, saliva, semen, vaginal secretions (VS), and menstrual blood (MB)—were analyzed using electronic nose technology. Samples were collected via sterile swabs (n = 100) and toilet paper (n = 75). Radar plots indicated that sensor S7 (W1W) exhibited peak responses across both carriers. Linear discriminant analysis of the 175 samples revealed distinct clustering patterns (ANOSIM R = 0.088, p &lt; 0.001). The random forest-based predictive models demonstrated that the general model—non-carrier-specific with n = 175—achieved accuracies of 100.00 % for VS, 90.91 % for blood, 81.82 % for semen, 72.73 % for MB, and 63.64 % for saliva; resulting in an overall accuracy of 81.82 %. Notably, when specifically utilizing toilet paper as a carrier, accuracy improved to 92.00 %, with saliva, MB, and VS achieving perfect scores at 100.00 %, while blood and semen reached accuracies of 80.00 %. An external validation set comprising n = 25 was employed to assess accuracy using sterile swab carriers; results indicated an overall accuracy rate of 84.00 %. Specifically: both blood and saliva achieved perfect scores at 100.00 %, whereas semen and MB recorded accuracies of 80.00 %. Conversely, the lowest accuracy was observed for VS at 60.00 %. This study marks the first use of a portable e-nose to differentiate common body fluids, offering a promising, low-cost, non-destructive and user-friendly approach for forensic analysis.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103347"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144902574","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":"Forensic analysis of a parthenogenetic 46, XX/46, XY congenital chimera: A case report","authors":"Linlin Gao ,&nbsp;Chenxia Li ,&nbsp;Yuntian Xiao ,&nbsp;Wenyan Ren ,&nbsp;Shujuan Ma ,&nbsp;Jingjing Zhang ,&nbsp;Jiangwei Yan","doi":"10.1016/j.fsigen.2025.103394","DOIUrl":"10.1016/j.fsigen.2025.103394","url":null,"abstract":"<div><div>In forensic identification, chimerism is an extremely rare phenomenon in which DNA samples can easily be misidentified as mixtures from two individuals. If only a single cell population from the chimera is collected, it may lead to false exclusions in paternity testing and errors in forensic conclusions. In China, short tandem repeat analysis is required for victim identification in homicide cases. This study originated from a murder case — the decedent's blood sample exhibited a mixed STR profile suggestive of two contributors. Therefore, 16 additional distinct types of organ tissues from the decedent were collected for comprehensive analysis. Autosomal STR testing revealed that the mixed STR profiles across the 17 different tissues were completely consistent, though the mixture ratios varied among tissues. No more than three alleles were observed at each locus, and the resolved male component M and female component F shared one identical allele at each locus. X-STR profiling showed that all 18 samples displayed no more than two alleles per locus, with consistent typing results. Both A-STR and X-STR findings indicated that components M and F originated from the same maternal chromosome. Copy number variation analysis confirmed the coexistence of two cell lines, 46, XX and 46, XY, in the decedent’s tissues. Cross-validation using multiple methods confirmed that the decedent was an intersex parthenogenetic chimera, with both cell lines randomly participating in tissue and organ differentiation. The resolved component F matched the decedent's son and husband in a parent-child relationship, consistent with a trio kinship. Meanwhile, the male component, together with the female component and the decedent’s sister, was inclined to be considered full siblings based on the combined identity by state score. These results ruled out the possibility that the mixed STR profile resulted from contamination and suggested the presence of normal oocytes in the decedent’s ovarian tissue, indicating that germline cells might not be chimeric. This study provides a deeper exploration of the mechanisms underlying chimerism and offers new insights and references for forensic identification. Future DNA studies of autopsy material may help clarify the incidence, subtypes, and pathogenesis of chimerism, while also determining the optimal tissue types for detecting chimerism and screening for chimerism, thereby supporting related research and practice.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103394"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145608137","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":"Construction of a succession model for the microbiome in water from submerged corpses based on single-molecule real-time sequencing","authors":"Xiaoxin Hu ,&nbsp;Mengqi Wu ,&nbsp;Bolei Zhao ,&nbsp;Tingyu Xu ,&nbsp;Zhenjun Jia ,&nbsp;Xingchun Zhao","doi":"10.1016/j.fsigen.2025.103378","DOIUrl":"10.1016/j.fsigen.2025.103378","url":null,"abstract":"<div><div>Decomposition of corpses in aquatic environments is regulated by multiple factors, and traditional methods for estimating the postmortem submerged interval (PMSI) have clear limitations. To explore the microbial succession patterns in the water of submerged corpses and their potential application in PMSI estimation, this study submerged rat carcasses in both river water and tap water, collecting water samples on days 0, 2, 6, 9, 14, 20, 27, 40, 54, and 70 postmortem. The microbial succession dynamics in the water were analyzed using single-molecule real-time sequencing. The results indicated that, although the response patterns to decomposition differed between the two water sources, key microorganisms common to various decomposition stages were identified, suggesting their important role in the process. This study characterized the microbial community succession trajectory at the species level and identified several species with potential for PMSI indication. Based on this, we constructed a simple random forest prediction model. During the 70-day decomposition period, the mean absolute errors (MAE) of the river water model and the tap water model were 5.8745 days and 4.8599 days, respectively. This research elucidates the microbial community succession patterns induced by corpse submersion in water, constructs a methodological framework for PMSI estimation based on water microbiomes, and provides crucial support for the development of more versatile PMSI inference models.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"81 ","pages":"Article 103378"},"PeriodicalIF":3.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145472319","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}