Forensic Science International-Genetics最新文献

{"title":"Forensic botany clues: Development of a novel Osmanthus fragrans STR multiplex system","authors":"Kewei Liang ,&nbsp;Pengfei Li ,&nbsp;Wei Zhang ,&nbsp;Chun Shi ,&nbsp;Bin Zhou ,&nbsp;Ting Wu ,&nbsp;Fu Ren ,&nbsp;Fei Guo","doi":"10.1016/j.fsigen.2026.103440","DOIUrl":"10.1016/j.fsigen.2026.103440","url":null,"abstract":"<div><div>Comprehensive research on human DNA genetic markers shows that short tandem repeats (STRs) have found extensive applications in individual identification and kinship testing. Botanical STRs are less commonly employed in forensic science due to the distinctive structure of plant cells and the incomplete state of genome sequencing. This study developed a novel 12-plex system for the individual identification of <em>Osmanthus fragrans</em> (<em>O. fragrans</em>), a species widely distributed across the world's temperate zones, to furnish essential botanical evidence for forensic investigations at crime scenes. Initially, a method for extracting plant DNA from trace samples was improved, which utilized glass beads to break cell walls and yielded significantly higher DNA quantities compared to the traditional method. Subsequently, five novel highly polymorphic STR loci (GHSTR1, GHSTR2, GHSTR4, GHSTR5, and GHSTR6) with trinucleotide repeats were identified from the <em>O. fragrans</em> reference genome (GCA_019395295.1) and characterized (expected heterozygosity &gt; 0.8, polymorphic information content &gt; 0.8, and power of discrimination &gt; 0.9). These loci were integrated with seven previously reported loci (OF5, OF7, OF8, OF9, OF13, OF19, and OSM063) to establish a multiplex system. Developmental validation was conducted in accordance with ISFG and SWGDAM guidelines. The system demonstrated substantial species specificity, high sensitivity (optimal input: 50–500 pg), robust tolerance to common PCR inhibitors (e.g., ≤500 µM hematin and ≤400 ng/µL humic acid), and reliable performance in mixture studies (detecting minor contributors at 1:19–19:1 ratios). PCR conditions were further optimized to 58°C annealing, 20 min elongation, and 28 cycles. The system showed high precision (standard deviation &lt;0.1 bp), accuracy (size deviation within ±0.5 bp), and inter-laboratory concordance. Population analysis of 273 samples revealed the high power of the system effectiveness (combined power of discrimination = 1 − 1.0045 ×10⁻¹⁹ and combined probability of exclusion = 0.993111589879955) despite observed Hardy-Weinberg equilibrium deviations. Ultimately, the system established definitive links between botanical evidence from suspects/victims and primary crime scenes in two real-world cases. In conclusion, the findings of the present study demonstrate the applicability of a novel STR multiplex system for individual identification of <em>O. fragrans</em> trace samples in forensic science. Without these forensic botany clues, these cases may not have been resolved.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"83 ","pages":"Article 103440"},"PeriodicalIF":3.1,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081590","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":"2026-01-28","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}

{"title":"Efficient DNA extraction and sequencing protocol for keratinised materials of animals","authors":"Yongheng Zhou ,&nbsp;Peng Gao ,&nbsp;Liangyu Cui ,&nbsp;Boyang Liu ,&nbsp;Chang Su ,&nbsp;Qi Zhang ,&nbsp;Yue Ma ,&nbsp;Tianming Lan ,&nbsp;Shuhui Yang ,&nbsp;Yanchun Xu","doi":"10.1016/j.fsigen.2026.103437","DOIUrl":"10.1016/j.fsigen.2026.103437","url":null,"abstract":"<div><div>Keratinised tissues represent a valuable non-invasive biological source of mitochondrial and nuclear DNA and hold significant potential for genomic research. However, studies using genomic DNA from keratinised tissues (kmDNA) remain considerably limited, particularly in non-human species, with most studies focusing on human hair. The limited understanding of kmDNA quality constrains its application, particularly in contexts where high-quality DNA is scarce, such as in wildlife conservation and historical research. Thus, this study aimed to develop an efficient DNA extraction and whole-genome sequencing protocol for isolating DNA from diverse keratinised materials. The protocol incorporates several key improvements that enhance the recovery of endogenous DNA from highly degraded samples. This optimised workflow allowed the recovery of DNA fragments as short as 20–30 bp and increased the proportion of endogenous DNA (<em>R</em>_<em>m</em>) by over 20 % on average. The refined library preparation strategy increased sequencing chip utilisation (the ratio of actual output data to its theoretical maximum output) by more than 50 % in some samples. This study provides an optimised sequencing protocol for the systematic evaluation of DNA quality across common keratinised materials, establishing a robust methodological framework for the genetic analysis of complex degraded samples (e.g. historical or field-collected samples). These advancements significantly expand the practical boundaries of molecular biological research under non-ideal conditions.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"83 ","pages":"Article 103437"},"PeriodicalIF":3.1,"publicationDate":"2026-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081681","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 Lab-on-a-Disc for enhanced sperm cell purification in differential extraction workflows","authors":"Un Na Koh ,&nbsp;Vijaya Sunkara ,&nbsp;Beomhee Ahn ,&nbsp;Mi Kang Jung ,&nbsp;Myunghee Jang ,&nbsp;Hwanghee Ryu ,&nbsp;Hanna Kim ,&nbsp;Jihye Ahn ,&nbsp;Kyusang Lee ,&nbsp;Si-Keun Lim ,&nbsp;Yoon-Kyoung Cho ,&nbsp;Beomseok Lee","doi":"10.1016/j.fsigen.2026.103430","DOIUrl":"10.1016/j.fsigen.2026.103430","url":null,"abstract":"<div><div>Efficient separation of sperm cells from mixed biological samples is critical in forensic DNA analysis, particularly in sexual assault investigations. Sperm separation in conventional differential extraction (cDE) methods is labor-intensive, time-consuming, and prone to sample loss, often compromising DNA recovery and quality. Here, we present the Forensic Lab-on-a-Disc, a centrifugal microfluidic device that enables rapid, semi-automated sperm cell and non-sperm DNA separation. Leveraging centrifugal force and tangential flow filtration with dual membranes (10 µm and 1 µm pore sizes), the device effectively separates sperm cells from epithelial cell lysates and debris. Optimization experiments identified a 10 µm pore size for the first filter as optimal for maximizing sperm cell recovery while depleting non-sperm DNA. A single washing cycle was sufficient to preserve male DNA ratio (defined as Y-DNA divided by total gDNA) while minimizing sperm loss. Comparative analyses showed that the Forensic Lab-on-a-Disc, which specifically replaces the sperm-cell separation step within the cDE workflow, outperforms the conventional method by delivering significantly higher male DNA ratio, faster processing times (∼6 min), and improved reproducibility. STR profiling confirmed male DNA recovery with minimal non-sperm DNA carryover, even in samples with epithelial-to-sperm DNA equivalent ratios as high as 1000:1. Featuring a compact, semi-automated, and multi-sample processing capability, the Forensic Lab-on-a-Disc reduces operator variability and minimizes non-sperm–derived lysate carryover risks that compromise mixture interpretation, offering a transformative solution to accelerate forensic DNA analysis in sexual assault cases.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103430"},"PeriodicalIF":3.1,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146069422","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":"Defining key criteria for microhaplotype locus selection in forensic genetics: Progress and recommendations by the Microhaplotype Working Group","authors":"Daniele Podini ,&nbsp;Daniel S. Standage ,&nbsp;Christopher Phillips ,&nbsp;María de la Puente ,&nbsp;Claus Børsting ,&nbsp;Vania Pereira ,&nbsp;Lucinda Davenport ,&nbsp;David Ballard ,&nbsp;Sarah E. Cavanaugh ,&nbsp;Brian Young ,&nbsp;Robert Lagacé ,&nbsp;Kevin M. Kiesler ,&nbsp;Fabio Oldoni ,&nbsp;Pedro Rodriguez ,&nbsp;Chiara Turchi ,&nbsp;Robert A. Bever ,&nbsp;Weibo Liang ,&nbsp;Andrew Pakstis ,&nbsp;Kenneth K. Kidd","doi":"10.1016/j.fsigen.2026.103421","DOIUrl":"10.1016/j.fsigen.2026.103421","url":null,"abstract":"<div><div>The Microhaplotype Working Group (MWG) has made significant progress in defining key criteria for identifying microhaplotype (MH) loci that will enhance forensic genetics. The growing number of publications on MHs reflects increasing interest in these markers and highlights the need for greater standardization in the field. This paper summarizes the group's achievements since its formation following forensic community discussions at the 29th ISFG Congress in 2022. In this paper, we focus on locus nomenclature, allele definitions for MHs, and the challenges of marker identification and characterization. With the progress achieved on the core published MH locus database, MicroHapDB (<span><span>https://github.com/bioforensics/MicroHapDB</span><svg><path></path></svg></span>), it is now possible to use unique names for all currently published MHs. The MWG has reached a consensus on the critical marker characteristics for selecting MH loci for forensic use, with the effective number of alleles (Ae) metric as the primary selection parameter. Criteria for excluding otherwise suitable candidate MHs include genome location, length limitations, close physical linkage with forensic STRs, and sequence complexity considerations. Specifically, MHs in Long and Short Interspersed Nuclear Elements (LINEs and SINEs) and Long Terminal Repeats (LTRs) should be avoided, along with loci longer than ∼250 base pairs (bp). Finally, loci containing Indels or low complexity sequence patterns near their allele-defining SNPs should be excluded. MHs less than roughly 100 bp are potentially useful for typing degraded samples while those up to 250 bp are broadly useful and generally more informative if they include a higher average number of informative SNPs. The potential development of specialized MH panels for applications such as mixture deconvolution or biogeographic ancestry estimation is discussed. Considering these parameters, the MWG has identified 1148 loci theoretically suitable for forensic applications. The assembly of a final panel will maximize Ae while ensuring marker independence and loci with flanking sequence suitable for robust primer designs. This work serves as a foundation for the future selection of a core set of MH loci for forensic applications and development of recommendations for their implementation in forensic casework.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"83 ","pages":"Article 103421"},"PeriodicalIF":3.1,"publicationDate":"2026-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081682","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":"2026-01-23","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":"Stolen babies in Spain: The long and winding search for an illegally adopted daughter","authors":"Antonio Alonso ,&nbsp;Pablo Martín ,&nbsp;Manuel López ,&nbsp;Manuel Crespillo ,&nbsp;María José Farfán","doi":"10.1016/j.fsigen.2026.103431","DOIUrl":"10.1016/j.fsigen.2026.103431","url":null,"abstract":"<div><div>This paper delves into the complex and protracted search for origins by individuals illegally adopted in Spain, using the emblematic case of Inés Madrigal as a central narrative. It examines the historical context surrounding allegations of widespread newborn abduction and irregular adoptions, addressing the discrepancy between unsubstantiated claims of 300,000 cases and the findings of official investigations. The article analyzes the critical role of forensic science, particularly DNA analysis of exhumed remains and hospital biopsies, in investigating these allegations. The findings of the National Institute of Toxicology and Forensic Sciences are discussed, highlighting that in a majority of investigated cases involving alleged newborn abduction in public hospitals, DNA analysis confirmed the deceased status of the infants, challenging the widespread narrative of systematic baby snatching. Furthermore, the paper explores the pivotal application of direct-to-consumer genetic genealogy testing in the case of Inés Madrigal, which ultimately led to the identification of her biological family despite the lack of matches in traditional forensic DNA databases. The legal journey of Inés Madrigal, including the landmark trial against Dr. Eduardo Vela and the subsequent rulings by the Provincial Court and the Supreme Court, are analyzed, underscoring the legal complexities and the issue of prescription in these cases. Finally, the article discusses the future role of forensic sciences in assisting illegally adopted individuals, emphasizing the need for enhanced collaboration between affected associations and state administration, promoting the use of available public services like the Ministry of Justice's information service and DNA database, and considering the potential of a regulated forensic genetic genealogy program. The paper underscores the importance of forensic investigations in uncovering the truth, providing justice for victims, and differentiating between cases of newborn abduction and irregular adoptions where parental consent may have been coerced or absent.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103431"},"PeriodicalIF":3.1,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146037184","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 strategy for body fluid mixture analysis using semen- and epidermis-specific tDMRs and adjacent microhaplotypes/SNPs","authors":"Sang Un Park ,&nbsp;Bo Min Kim ,&nbsp;Soyi Park ,&nbsp;Hwan Young Lee","doi":"10.1016/j.fsigen.2026.103429","DOIUrl":"10.1016/j.fsigen.2026.103429","url":null,"abstract":"<div><div>Forensic evidence derived from semen or epidermis is often found mixed with other body fluids, and analysis becomes particularly challenging when DNA from multiple contributors is present in similar proportions. In addition, even when tissue or body fluid are successfully identified from mixtures, determining the donor of each tissue remains difficult. To overcome these limitations, we developed and applied a combined genetic marker containing semen- or epidermis-specific methylated CpGs and nearby microhaplotypes (MHs) or single nucleotide polymorphisms (SNPs). DNA methylation array data from 29 samples—including semen, epidermis, blood, saliva, vaginal fluid, and menstrual blood—were used to identify tissue-specific CpGs. Public SNP database and blood DNA from 300 Korean individuals were further used to identify nearby MHs. In total, 21 CpG-MH loci including 16 semen-specific methylated CpGs and five epidermis-specific methylated CpGs were selected. Enzymatic conversion followed by massively parallel sequencing (MPS) was performed on 49 samples, including 16 single-source samples and 33 semen- or epidermis-containing mixtures with a 1:1 ratio, to simultaneously analyze the target CpGs and MHs. We performed tissue-specific DNA profiling using methylation status at the target CpGs. The assay demonstrated that, in mixed profiles with a 1:1 ratio—previously difficult to interpret using conventional methods—non-target tissue alleles could be effectively excluded, leaving predominantly target tissue alleles. Although tissue-specific DNA profiling requires more sophisticated modeling that accounts for allele zygosity, allele dropout, and a larger number of markers to ensure sufficient individual discrimination power, the CpG-MH assay is capable of extracting valuable information even from mixtures with similar proportions of two contributors, including semen or epidermis.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103429"},"PeriodicalIF":3.1,"publicationDate":"2026-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146021063","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 evaluation of ForenSeq DNA Signature Prep iiSNP mixture interpretation using a probabilistic genotyping method","authors":"Kevin Cheng,&nbsp;Jo-Anne Bright","doi":"10.1016/j.fsigen.2026.103428","DOIUrl":"10.1016/j.fsigen.2026.103428","url":null,"abstract":"<div><div>The analysis of autosomal short tandem repeat markers (STRs) using capillary electrophoresis (CE) technology remains the dominant method for forensic investigations globally. However, next-generation sequencing technologies are increasingly being adopted as they enable simultaneous amplification of both STR and SNP (single-nucleotide polymorphisms) loci in large panels, amongst other benefits. Unlike STRs, which are highly variable or polymorphic, the majority of SNPs are biallelic, meaning there are only two allelic variants. A single SNP marker on its own is unlikely to provide as much evidentiary value as a single STR marker. However, the interpretation of SNP markers from mixed DNA evidence is computationally simpler than that of STR markers because they do not produce stutter artefacts and, being biallelic, there are fewer possible genotype combinations. SNPs are increasingly recognised as valuable markers, complementary to STRs, and have been proven to be useful for applications including kinship analyses, informing ancestry, providing phenotypic characters for investigative leads, or forensic investigative genetic genealogy. The most common approach for the interpretation of autosomal STR (aSTR) profiles developed using CE technology within the US, UK, and Australasia is now based on probabilistic genotyping methods. Some of these published and tested models have been applied to aSTR profiles developed using NGS technologies and in this paper, we investigate the application of one such model (STRmix™ NGS) to the interpretation of mixed SNP profiles. Comparisons of likelihood ratios (LRs) assigned to donors and non-donors show expected trends in single-source profiles. However, in more complex mixtures, the system’s ability to differentiate between true and false donors diminishes quickly. This is consistent with theoretical limitations for biallelic markers. While this study is limited to the 94 iiSNPs (identity informative SNPs) included in the ForenSeq kit, the findings suggest that simple SNP profiles can be interpreted within the existing STRmix™ NGS framework. This provides another potential tool for SNP profile analysis and lays the foundation for future joint interpretation of STR and SNP markers, or assays with more SNP markers.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103428"},"PeriodicalIF":3.1,"publicationDate":"2026-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146014096","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":"Genetic and isotopic analyses of medieval skeletons (1150–1349) at St. Peter’s churchyard, Berlin/Cölln, Germany","authors":"Kristin Rath ,&nbsp;Marion Tichomirowa ,&nbsp;Alexandra Käßner ,&nbsp;Jessica Rothe ,&nbsp;Kristina Killgrove ,&nbsp;Martin Bodner ,&nbsp;Sascha Willuweit ,&nbsp;Claudia Melisch ,&nbsp;Marion Nagy","doi":"10.1016/j.fsigen.2026.103427","DOIUrl":"10.1016/j.fsigen.2026.103427","url":null,"abstract":"<div><div>The medieval market Berlin, nucleus and starting point of what eventually became Germany’s capital, was mirrored by another medieval settlement named Cölln (Lat. <em>colonia</em>) on the opposite side of the Spree River. In Cölln, St. Peter’s cemetery was in use from about 1150–1717. In this study we investigated individuals from the earliest graves of this cemetery regarding their geographic origin using genetic analyses on bones and teeth as well isotopic analyses on dental enamel. Genetic analysis of 96 individuals was done for 16 autosomal STRs as well as the amelogenin marker for sex determination. We identified 54 unrelated males, who were typed for 27 Y-chromosomal STRs and assigned to 12 different Y-haplogroups. The Y-haplogroup distribution of St. Peter’s showed a high similarity to the population of present-day Germany with high amounts of both R1a (31.5 %) and R1b (44.4 %) as well as I1 (11.1 %) and I2a (7.4 %). Geographic ancestry prediction, using AMOVA analysis, revealed a high genetic similarity between the populations of St. Peter’s and the present-day German population. Significant differences could be detected for neighboring western and eastern European populations. MtDNA typing for all 96 individuals using coding region SNPs demonstrated a characteristic European distribution with haplogroups H (46.9 %), U (17.7 %), T (12.5 %), J (7.3 %) and K (8.3 %). Further typing for 48 individuals was done by sequencing the full mtDNA control region, revealing only trace amounts of Slavic-associated haplogroups. The strontium and oxygen isotope analysis of 66 of the earliest graves showed that most individuals came from the Berlin-Brandenburg area and the adjacent regions, with signs of migration limited to a few individuals.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"82 ","pages":"Article 103427"},"PeriodicalIF":3.1,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146037185","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}