Forensic Science International-Genetics最新文献

{"title":"António Amorim (in memoriam)","authors":"Maria João Prata, Leonor Gusmão, Iva Gomes, Nádia Pinto, Sandra Martins, Verónica Gomes, Angel Carracedo","doi":"10.1016/j.fsigen.2025.103254","DOIUrl":"10.1016/j.fsigen.2025.103254","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"79 ","pages":"Article 103254"},"PeriodicalIF":3.2,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588908","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 biogeographical ancestry inference pipeline using PCA-XGBoost model and its application in Asian populations","authors":"Chunnain Wang ,&nbsp;Shuaiqi Wang ,&nbsp;Yiru Zhao ,&nbsp;Jun Liu ,&nbsp;Deqin Zhang ,&nbsp;Fuyang Wang ,&nbsp;Hong Fan ,&nbsp;Caixia Li ,&nbsp;Li Jiang","doi":"10.1016/j.fsigen.2025.103239","DOIUrl":"10.1016/j.fsigen.2025.103239","url":null,"abstract":"<div><div>Biogeographical ancestry (BGA) inference plays a crucial role in genetics, anthropology, forensic science, and medical research. Current methods like principal component analysis (PCA) and ADMIXTURE, based on single nucleotide polymorphisms, are commonly used. Here, we introduce a bio-geographical ancestry inference pipeline that integrates prior population structure and clustering. Our pipeline first analyzes genetic structure on cleaned data to obtain optimal parameters and classification model labels. An XGBoost (eXtreme Gradient Boosting) classification model is constructed using principal components from PCA, and model predictions are evaluated with LR (likelihood ratio). The pipeline was applied to a dataset of Asian populations, with a first prediction accuracy of 96.27 % achieved. The LR-based evaluation accuracy reached 98.96 %, showing an improvement of 2.69 % with the introduction of LR assessment. This highlights the robust predictive capability of our pipeline and the improved accuracy in evaluation with LR. This successful application will benefit genetic research, human history studies, and criminal investigations. Additionally, the pipeline's versatility allows application to new datasets.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"77 ","pages":"Article 103239"},"PeriodicalIF":3.2,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549849","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":"DNA methylation-based semen age prediction using the markers identified in Koreans and Europeans","authors":"Ji Eun Lee ,&nbsp;Sohee Cho ,&nbsp;Moon Hyun So ,&nbsp;Hwan Young Lee","doi":"10.1016/j.fsigen.2025.103243","DOIUrl":"10.1016/j.fsigen.2025.103243","url":null,"abstract":"<div><div>In the forensic field, sexual assaults have consistently been the important issue, with semen frequently serving as the primary evidence. When the suspect is unidentified, estimating the perpetrator’s age using investigating semen can provide important information. The VISAGE consortium conducted research on the semen age prediction focused on European semen samples, but the age prediction model has remained undisclosed. Additionally, several studies have reported methylation differences across populations, indicating that the European semen age prediction model might not be broadly applicable to other groups. A study did explore semen age prediction in Koreans using Illumina’s Infinium Methylation450K BeadChip array, however recent developments in technology could enhance this approach. To address this, we conducted a study on Korean males aged 18–70 years. We initially analyzed 49 samples utilizing Illumina’s Infinium MethylationEPIC BeadChip array to identify age-related CpG sites. From this analysis, we identified 9 age-related CpG markers, excluding one due to difficulties in locus-specific analysis. As a result, we used 11 markers including 8 newly identified CpGs from the EPIC array and 3 CpG markers from previous research utilizing the SNaPshot assay. Furthermore, we incorporated 13 CpG markers from the European study to analyze a total of 159 semen samples using the Illumina Nextera MPS system. This approach enabled us to test age-related markers identified in Europeans within the Korean population and to construct a more accurate age prediction model using markers from both Korean and European sources.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"77 ","pages":"Article 103243"},"PeriodicalIF":3.2,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519577","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":"Differences of tsRNA expression profiles efficiently discriminate monozygotic twins in peripheral blood","authors":"Meihui Tian ,&nbsp;Xiangnian Liu ,&nbsp;Danyang Wang ,&nbsp;Yuxi Wang ,&nbsp;Siwen Wang ,&nbsp;Jiayi Wei ,&nbsp;Dawei Guan ,&nbsp;Jun Yao","doi":"10.1016/j.fsigen.2025.103242","DOIUrl":"10.1016/j.fsigen.2025.103242","url":null,"abstract":"<div><div>Monozygotic twins (MZTs) share nearly identical genomic DNA sequences, making traditional forensic short tandem repeats (STR) genotyping methods ineffective for distinguishing between them. In recent years, the use of epigenetic factors in forensic applications has gained traction. The dynamic epigenetic factors can be influenced by inherited traits or acquired environmental factors. This study analyzed the expression profiles of transfer RNA-derived small RNAs (tsRNAs) in peripheral blood from four pairs of adult MZTs using Panoramic RNA Display by Overcoming RNA Modification Aborted Sequencing (PANDORA-seq). Differentially expressed tsRNAs (DEtsRNAs) were identified and validated using the reverse-transcriptase quantitative polymerase chain reaction (RT-qPCR) and droplet digital PCR (ddPCR) in both adult and newborn MZTs. The study also evaluated the longitudinal temporal stability, resistance to degradation, and suitability of DEtsRNAs for aged bloodstains. A total of 8795 expressed tsRNAs were identified in the four pairs of adult MZTs by PANDORA-seq. After screening with a normalized | log₂ (fold change) | &gt; 1 and an adjusted p-value &lt; 0.05, 10, 187, and 1520 DEtsRNAs were shared by 4, 3, and 2 pairs of MZTs. RT-qPCR and ddPCR confirmed the expression of the 10 DEtsRNAs identified by PANDORA-seq. Six candidate tsRNAs (tRNA-Gly-GCC, tRNA-Leu-TAA, tRNA-Lys-CTT, tRNA-Val-AAC_5_end, tRNA-iMet-CAT_5_end, and tsRNA-3023a/b-PheGAA) were identified as effective discrimination markers, even in neonatal MZTs which are largely unaffected by environment factors. Forensic applicability assessment revealed that tRNA-Gly-GCC and tRNA-Leu-TAA remained detectable in the 180-day-series bloodstains, while tRNA-Lys-CTT, tRNA-Val-AAC_5_end, and tRNA-iMet-CAT_5_end were relatively stable after 15 times of freeze-thaw cycles. Additionally, tRNA-Gly-GCC and tRNA-Lys-CTT exhibited long-term stability, with consistent expression over six months. In conclusion, this study demonstrates that differential tsRNAs expression can serve as a novel biomarker for MZT identification in forensic medicine.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"77 ","pages":"Article 103242"},"PeriodicalIF":3.2,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143474994","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":"SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS)","authors":"Aummarin Chaloemthanetphong ,&nbsp;Kiattawee Choowongkomon ,&nbsp;Wikanda Worrapitirungsi ,&nbsp;Nattachai Thangsiriskul ,&nbsp;Tikumphorn Sathirapatya ,&nbsp;Poonyapat Sukawutthiya ,&nbsp;Hasnee Noh ,&nbsp;Ashfaque Ahmed Kanhar ,&nbsp;Pagparpat Varrathyarom ,&nbsp;Irin Lertparinyaphorn ,&nbsp;Napapat Natthasumon ,&nbsp;Saknan Bongsebandhu-Phubhakdi ,&nbsp;Vichaya Auvichayapat ,&nbsp;Kornkiat Vongpaisarnsin","doi":"10.1016/j.fsigen.2025.103237","DOIUrl":"10.1016/j.fsigen.2025.103237","url":null,"abstract":"<div><div>Sudden Unexplained Nocturnal Death Syndrome (SUNDS), locally known as Lai-tai in Thailand, leads to sudden death during sleep in otherwise healthy young males. Cardiac arrhythmias, including Brugada syndrome (BrS) and Long QT syndrome (LQTS), are often implicated, with mutations in the <em>SCN5A</em> gene, encoding the Na_v1.5 sodium channel, strongly linked to both conditions. This study characterized postmortem SUNDS cases in Thailand and analyzed <em>SCN5A</em> gene variants using whole exome sequencing (WES) and molecular modeling. Forensic autopsies were performed on 98 SUNDS victims from August 2020 to February 2023. WES was applied to 98 SUNDS-related genes, filtering variants based on dbNSFP annotations and public databases like the 1000 Genomes Project. Three <em>SCN5A</em> variants (A665S, R179Q, and R965C) were detected in five cases (approximate for 5 %). One case of A665S, which was reported for the first time in Thailand, was discovered. The R179Q variant was identified in an additional case, but it did not have a substantial electrostatic surface impact on Na_v1.5. In contrast, the R965C variant, which is frequently associated with BrS, was discovered in three cases (approximate for 3 %). These results imply that <em>SCN5A</em> variants are involved in the pathogenesis of SUNDS and may provide valuable genetic markers for the purpose of diagnosis and prevention.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103237"},"PeriodicalIF":3.2,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445146","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":"Identification of body fluid sources based on microbiome antibiotic resistance genes using high-throughput qPCR","authors":"Daijing Yu ,&nbsp;Tian Wang ,&nbsp;Liwei Zhang ,&nbsp;Niu Gao ,&nbsp;Yuqing Huang ,&nbsp;Jun Zhang ,&nbsp;Jiangwei Yan","doi":"10.1016/j.fsigen.2025.103241","DOIUrl":"10.1016/j.fsigen.2025.103241","url":null,"abstract":"<div><div>Identifying the origin of body fluids is a critical step in forensic investigation. Recently, the development of high-throughput sequencing technology has led to the use of microbiomes for body fluid identification in forensic studies. However, high-throughput sequencing data are difficult to analyze, the sequencing protocol is complicated. An increasing number of studies have focused on antibiotic resistance genes (ARGs) in the human microbiome. The abundance and diversity of ARGs in different parts of the human body can be detected using quantitative polymerase chain reaction (qPCR). To date, no studies have inferred the sources of body fluids based on ARGs. Therefore, we attempted to use ARGs as a tool to infer the origin of body fluids. We assessed the abundance and diversity of 64 ARGs in blood, semen, saliva, vaginal secretions (VS), nasal secretions (NS), and fecal samples using high-throughput qPCR. The results showed that ARGs were more diverse in fecal samples, which was significantly higher than those of other sample types (<em>P</em> &lt; 0.05). Principal coordinate analysis (PCoA) showed that the samples clustered mainly according to their type. We constructed a random forest classification model based on 64 ARGs with a prediction accuracy of 92.68 %. Next, we evaluated the importance of the features in the random forest model (mean decrease accuracy, MDA). Subsequently, we constructed prediction models for the top 40 and 20 ARGs after sorting genes with the highest MDA, and their prediction accuracies were both 92.68 %. The accuracy of the top 10 ARGs was 87.80 %. Notably, when only the top 10 characterized ARGs were used to construct models for saliva, semen, and VS samples, the prediction accuracy reached was 95.24 %. This shows that blood, semen, saliva, NS, VS, and fecal samples can be accurately identified using ARGs. Our results suggest that ARGs are promising markers for forensic body fluid identification.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"77 ","pages":"Article 103241"},"PeriodicalIF":3.2,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143454818","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 CE-based mRNA profiling method including six targets to estimate the time since deposition of blood stains","authors":"A.E. Fonneløp ,&nbsp;N.V. Hänggi ,&nbsp;C.C. Derevlean ,&nbsp;Ø. Bleka ,&nbsp;C. Haas","doi":"10.1016/j.fsigen.2025.103240","DOIUrl":"10.1016/j.fsigen.2025.103240","url":null,"abstract":"<div><div>An association between RNA degradation and the time since deposition (TsD) of a biological stain has previously been demonstrated. Despite the encouraging results obtained with several RNA markers, the variability in results between individuals and analytical approaches limits the method's application in casework. The incorporation of multiple markers into a single prediction model could enhance estimation accuracy. Typically, real-time qPCR has been the primary analytical platform for these studies. However, qPCR requires high sample volumes and involves numerous pipetting steps when analysing multiple markers, increasing the risk of errors. In this study, we aim to optimize the TsD analysis by combining six targets in three mRNA markers (S100A12, LGALS2 and CLC) in a PCR multiplex and transitioning the analysis platform from qPCR to capillary electrophoresis (CE). This collaborative effort between the Department of Forensic Research at Oslo University Hospital (Laboratory 1) and the Zurich Institute of Forensic Medicine (ZIFM, Laboratory 2) analysed a total of six sample sets, spanning a period of 0 days up to 1.5 years (551 days), along with a broad set of test samples including different carrier materials. Furthermore, a machine learning model was employed to predict the age of bloodstains, aiming to enhance the precision and reliability of TsD estimations.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"77 ","pages":"Article 103240"},"PeriodicalIF":3.2,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-juvenile familial form of life-threatening arrhythmias caused by the Ryanodine Receptor type 2 c.13823 G>A, p.(Arg4608Gln) pathogenic variant: Atypical catecholaminergic polymorphic ventricular Tachycardia or misdiagnosis?","authors":"Sok-Sithikun Bun ,&nbsp;Fabien Squara ,&nbsp;Didier Scarlatti ,&nbsp;Céline Leccia ,&nbsp;Florence Kyndt ,&nbsp;Emile Ferrari ,&nbsp;Cécile Rouzier","doi":"10.1016/j.fsigen.2025.103238","DOIUrl":"10.1016/j.fsigen.2025.103238","url":null,"abstract":"<div><h3>Background</h3><div>Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited channelopathy, responsible for potentially lethal malignant arrhythmic episodes. Atypical non-juvenile form of CPVT may not mislead an alternative diagnosis of calcium release deficiency syndrome (CRDS).</div></div><div><h3>Case</h3><div>The index case was a 58 years-old woman who experienced aborted sudden cardiac arrest. The initial complete diagnostic workup (including norepinephrine challenge) was completely negative. She was implanted with an entirely subcutaneous defibrillator. During her follow-up, she received an appropriate electrical shock (ventricular fibrillation) despite β-blocker treatment. Three sisters (46, 40 and 18 years-old) as well as 2 cousins, one paternal uncle and one paternal aunt had sudden cardiac deaths (SCD) without etiology in the family history. There were no additional reports of pregnancy loss, neonatal death, seizures or SCD among the family members. The genetic analysis in this proband revealed a missense pathogenic variant c.13823 G&gt;A, p.(Arg4608Gln) in the <em>RYR2</em> gene, encoding the Ryanodine Receptor type 2. This c.13823 G&gt;A, p.(Arg4608Gln), variant in the <em>RYR2</em> gene was supposed to be a potential disease-causing variant in CPVT. Unfortunately, before the end of the proband's genetic analysis, her 20 years-old daughter experienced SCD, whilst being implanted with an insertable cardiac monitor. Familial segregation analysis confirmed the four symptomatic sisters harbor also the same variant confirming the pathogenic role of this variant. We also identified 7 carriers who were clinically negative for CPVT in the next generation. Whole were treated with Nadolol 80 mg per day, and the follow-up was uneventful after twenty-four months.</div></div><div><h3>Conclusion</h3><div>The Ryanodine Receptor type 2 c.13823 G&gt;A, p.(Arg4608Gln) pathogenic variant is described in a malignant familial form of CRDS.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103238"},"PeriodicalIF":3.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143422417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation into the genotyping performance of a unique molecular identifier based microhaplotypes MPS panel in complex DNA mixture","authors":"Qiang Zhu ,&nbsp;Haoyu Wang ,&nbsp;Yuhan Hu,&nbsp;Yifan Wei,&nbsp;Yuting Wang,&nbsp;Tingyun Hou,&nbsp;Tiantian Shan,&nbsp;Xiaokang Zhang,&nbsp;Chun Yang,&nbsp;Yuntao Cai,&nbsp;Yufang Wang,&nbsp;Ji Zhang","doi":"10.1016/j.fsigen.2025.103236","DOIUrl":"10.1016/j.fsigen.2025.103236","url":null,"abstract":"<div><div>In forensic science, genotyping mixed DNA is a critical and complex task. Sequencing errors and allele sharing complicate the analysis, particularly in cases involving unbalanced mixtures, multiple contributors, and kinship relationships. Massively parallel sequencing (MPS) panels comprising highly polymorphic microhaplotypes (MHs) offer a promising approach for detecting unique alleles in mixtures with a mixture ratio greater than 10:1, involving more than two contributors or contributors with kinship. However, sequencing errors such as base substitution and InDels on the MPS platform remain a significant challenge in genotyping complex mixed DNA. The barcoding approach has been introduced to MPS to distinguish true alleles from sequencing errors. This method employs unique molecular identifiers (UMIs) to tag individual DNA molecules, allowing for the identification and correction of random sequencing errors. By generating consensus sequences from read replicates associated with the same UMI, this approach enhances the accuracy of allele detection. In this study, UMIs were incorporated into developing a highly polymorphic panel consisting of 105 MHs, with an average effective number of alleles (Ae) of 6.9. Various types of mixed DNA samples were prepared, including unbalanced mixtures with ratios ranging from 1:1–160:1, multi-contributor mixtures with 2–6 contributors, and kinship-involved mixtures with parent-offspring to fourth-degree relatives contributors. Unique alleles were quantified, and mixture proportions (Mx) were calculated separately using sequencing reads and the number of UMI families with more than 10 members. The results demonstrated that UMI played a critical role in identifying sequencing errors and enhancing the accuracy of allele genotyping in unbalanced mixtures. A strong correlation (R² = 0.96) between UMI count and DNA template amount demonstrated that DNA template amount could be inferred from UMI count. Mx values derived from the number of UMIs were consistent across loci and showed a high correlation with mixture ratios (R² = 0.85). Additionally, the panel efficiently detected unique alleles across all three types of complex DNA mixtures. Overall, this study underscores the importance of UMIs in mitigating PCR and sequencing biases, thereby improving the performance of the MH-MPS panel for genotyping complex DNA mixtures. UMIs represent a valuable tool for mixed DNA genotyping and hold potential for boarder applications in probabilistic genotyping.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103236"},"PeriodicalIF":3.2,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143348322","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":"Massively parallel sequencing of a forensic combined panel of 107-plex STR loci and 292-plex SNP loci in the Han Chinese population","authors":"Weifen Sun ,&nbsp;Bonan Dong ,&nbsp;Xufeng Chu ,&nbsp;Qiannan Xu ,&nbsp;Hui Li ,&nbsp;Man Chen ,&nbsp;Lei Jiang ,&nbsp;Ao Huang ,&nbsp;Bofeng Zhu ,&nbsp;Xiling Liu","doi":"10.1016/j.fsigen.2025.103235","DOIUrl":"10.1016/j.fsigen.2025.103235","url":null,"abstract":"<div><div>Massively parallel sequencing (MPS), a well-established strategy for forensic DNA profiling, enables the simultaneous sequencing of multiple targeted loci of multiple samples at a single-base resolution with high coverage. In this study, we developed a novel typing system by combining solution-based hybrid capture methods with MPS to target as many as 107 short tandem repeats (STRs) and 292 single nucleotide polymorphisms (SNPs) in the Han Chinese population. Completely accurate and concordant STR genotypes were obtained when compared to typing results generated from conventional capillary electrophoresis analysis, with six loci exhibiting inferior performance due to allele dropout or even locus dropout. The locus detection success reached 85.2 % for STRs at a DNA input of 10 ng and 95.61 % for SNPs at a DNA input of 5 ng. Mixture studies substantiated the considerable potential of our system in identifying minor contributor alleles at both STR and SNP loci. Additionally, the system demonstrated full inferential abilities in distinguishing first-degree kinship from unrelated individual pairs and achieved significant effectiveness of 99.78 % and 80.2 % for the identification of second- and third-degree kinship, respectively. These findings indicated that our novel typing system is highly discriminative and informative when used in the Han Chinese population and would be highly efficient for use in paternity testing and complex kinship analysis.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103235"},"PeriodicalIF":3.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143331979","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}