Forensic science international. Genetics最新文献

TrACE - Trace analysis collaborative exercise: A transparent, expert driven concept of proficiency tests. 跟踪-跟踪分析协作练习：一个透明的、专家驱动的能力测试概念。

IF 3.1

Forensic science international. Genetics Pub Date : 2026-01-01 Epub Date: 2025-07-25 DOI: 10.1016/j.fsigen.2025.103333

Marielle Vennemann, Hannah Bauer, Katja Anslinger, Martin Eckert, Waldemar Spitz, Stefanie Grethe, Walther Parson, Petra Preikschat-Sachse, The TrACE Team

{"title":"TrACE - Trace analysis collaborative exercise: A transparent, expert driven concept of proficiency tests.","authors":"Marielle Vennemann, Hannah Bauer, Katja Anslinger, Martin Eckert, Waldemar Spitz, Stefanie Grethe, Walther Parson, Petra Preikschat-Sachse, The TrACE Team","doi":"10.1016/j.fsigen.2025.103333","DOIUrl":"10.1016/j.fsigen.2025.103333","url":null,"abstract":"TrACE (Trace Analysis Collaborative Exercise) represents a novel, strictly expert driven and transparent concept of external quality control based on a combination of proficiency testing and interlaboratory comparisons. TrACE is an official proficiency test scheme of the German Stain Commission and acts in accordance with the recommendations for proficiency testing issued by this commission and outlined in DIN EN ISO 17025. TrACE offers modules on all aspects of forensic genetics that address challenges encountered in real casework. Basic modules represent proficiency tests that cover the physical examination of items, the identification of body fluids, DNA extraction, the analysis of autosomal and Y-chromosomal STRs and mitochondrial DNA (mtDNA), and the interpretation and verbalisation of results, including complex mixtures. Advanced and extended modules provide interlaboratory tests with more challenging items and novel methodology such as probabilistic genotyping and forensic DNA phenotyping (FDP). Each module is coordinated by an internationally recognised expert in the respective field. The members of the TrACE team are based in case work and/or academic forensic laboratories.","PeriodicalId":94012,"journal":{"name":"Forensic science international. Genetics","volume":"80 ","pages":"103333"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144812809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Revisiting guidance on population sampling for highly polymorphic STR loci. 重新审视高多态性STR基因座的群体抽样指南。

IF 3.1

Forensic science international. Genetics Pub Date : 2026-01-01 Epub Date: 2025-08-05 DOI: 10.1016/j.fsigen.2025.103336

Sanne E Aalbers, Katherine B Gettings

{"title":"Revisiting guidance on population sampling for highly polymorphic STR loci.","authors":"Sanne E Aalbers, Katherine B Gettings","doi":"10.1016/j.fsigen.2025.103336","DOIUrl":"10.1016/j.fsigen.2025.103336","url":null,"abstract":"Population databases allow us to attach probabilities to DNA evidence by the estimation of genotype frequencies, which rely on accurate allele frequency estimates. As short tandem repeat (STR) marker sets for human identification have expanded to include more discriminating markers, and especially now that sequencing techniques allow us to distinguish between alleles based on variation in underlying base-pair structure, it is important to reevaluate existing guidance on population database sizes for the estimation of allele frequencies. In this paper, we revisit the topic of population sampling by focusing on the representation of alleles, i.e. whether alleles are observed or not, in a sample of individuals containing data for highly polymorphic autosomal STR loci. The effect of both length- and sequence-based STR data on population sample size implications are demonstrated, and differences between lesser and more polymorphic markers are discussed. The consequences of using a limited number of individuals are explored and the impact of increasing population sample sizes by combining different data sets is shown to help determine the point at which further sampling may no longer provide significant value. Finally, different approaches for accommodating previously unobserved alleles and their impact on DNA evidence evaluations are discussed.","PeriodicalId":94012,"journal":{"name":"Forensic science international. Genetics","volume":"80 ","pages":"103336"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382342/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144805494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Applying an interpretation model for body fluid mixture identification. 应用解释模型识别体液混合物。

IF 3.1

Forensic science international. Genetics Pub Date : 2025-10-04 DOI: 10.1016/j.fsigen.2025.103362

Courtney R H Lynch, Zhijian Wen, James M Curran

{"title":"Applying an interpretation model for body fluid mixture identification.","authors":"Courtney R H Lynch, Zhijian Wen, James M Curran","doi":"10.1016/j.fsigen.2025.103362","DOIUrl":"https://doi.org/10.1016/j.fsigen.2025.103362","url":null,"abstract":"Confirmatory body fluid identification via the detection of specific messenger RNA (mRNA) species is important in circumstances where a conventional test is not available for the questioned fluid type (such as vaginal material) or when greater sensitivity, or specificity, is required. Samples forwarded for testing will often contain two or more body fluid types from different donors (mixtures). Endpoint reverse-transcription PCR (RT-PCR) or real-time quantitative reverse-transcription PCR (RT-qPCR) are two methods which may be used for confirmatory body fluid identification, with the former currently in use in forensic casework laboratories. The interpretation of such data has been a topic of recent interest, with two main approaches proposed: categorical and probabilistic. Categorical methods, which may use a scoring system or a threshold approach, do not utilise all relevant information. Probabilistic methods are able to incorporate known information and reflect uncertainty as part of classification. This paper explores the use of multi-class machine learning classifiers to predict the components of body fluids in mixed samples, extending prior work on single-source body fluids. When including mixture profiles within the training data as an additional class, we obtained high prediction accuracy. We also determine that quantitative information is more informative than binary (presence/absence) data for the prediction of body fluids in different mixture ratios. Finally, we investigate the modelling and prediction of an \"unknown\" category, composed of samples which do not have specific features in the data, using two approaches: metric learning and a leave-one-type-out simulation for missing data.","PeriodicalId":94012,"journal":{"name":"Forensic science international. Genetics","volume":"81 ","pages":"103362"},"PeriodicalIF":3.1,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Development and evaluation of an optimized Ancient DNA extraction method for femoral diaphyses and simulated heat-treated teeth. 股骨骨干和模拟热处理牙齿古代DNA提取优化方法的开发与评价。

IF 3.1

Forensic science international. Genetics Pub Date : 2025-10-01 DOI: 10.1016/j.fsigen.2025.103371

Guihong Liu, Shengqiu Qu, Qiushuo Wu, Yazi Zheng, Mengyu Tan, Jiaming Xue, Haoyan Jiang, Mengna Wu, Yuxuan Tan, Miao Liao, Jing Yan, Meili Lv, Lin Zhang, Weibo Liang

{"title":"Development and evaluation of an optimized Ancient DNA extraction method for femoral diaphyses and simulated heat-treated teeth.","authors":"Guihong Liu, Shengqiu Qu, Qiushuo Wu, Yazi Zheng, Mengyu Tan, Jiaming Xue, Haoyan Jiang, Mengna Wu, Yuxuan Tan, Miao Liao, Jing Yan, Meili Lv, Lin Zhang, Weibo Liang","doi":"10.1016/j.fsigen.2025.103371","DOIUrl":"https://doi.org/10.1016/j.fsigen.2025.103371","url":null,"abstract":"Extracting endogenous DNA from highly degraded hard tissue samples, such as bones and teeth, is crucial yet challenging for forensic human identification. Existing forensic methods and commercial kits for DNA extraction from bones and teeth often inefficient for old, poorly preserved, chemically treated, or heat-exposed samples. Ancient DNA (aDNA) extraction technology is highly effective in recovering degraded, short DNA fragments and has been successfully used to isolate DNA from skeletal remains and sediments dating back to tens of thousands of years. However, its direct application to individual identification and short tandem repeat (STR) analysis may require further adaptation to meet specific forensic requirements. Therefore, this study was conducted to optimize aDNA extraction techniques for developing a method tailored for highly degraded forensic samples. We developed a forensic aDNA-based extraction (FADE) method by refining the aDNA extraction protocol through optimization of lysis and purification conditions. The effectiveness of the developed method was validated using 8 forensic case samples (femoral diaphyses) and 20 simulated heat-treated teeth. For samples subjected to prolonged heat treatment, the FADE method significantly increased peak heights, with improvements of 30 % and 45 % in the 30- and 40-min heat-treatment groups, respectively, and yielded a greater number of amplified loci and alleles. The FADE method developed in this study is well-suited for forensic applications involving highly degraded femoral diaphyses and simulated heat-treated teeth, significantly enhancing the success rates of DNA analysis and providing an effective technical solution for complex forensic DNA extraction.","PeriodicalId":94012,"journal":{"name":"Forensic science international. Genetics","volume":"81 ","pages":"103371"},"PeriodicalIF":3.1,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145245551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expression of Concern "Population data of 17 Y-STR loci in Nanyang Han population from Henan Province, Central China" [Forensic Sci. Int. Gene. 13 (2014) 145-146]. 《河南省南阳汉族人群17个Y-STR基因座的种群数据》[法医学]；Int。基因，13(2014)145-146。

Forensic science international. Genetics Pub Date : 2025-02-01 Epub Date: 2024-08-05 DOI: 10.1016/j.fsigen.2024.103119

引用次数: 0

Expression of Concern: "Genetic profile of 17 Y chromosome STRs in the Guizhou Han population of southwestern China" [Forensic Sci. Int. Genet. 25 (2016) e6-e7]. 关注表达：“中国西南地区贵州汉族人群17条Y染色体STRs的遗传图谱”[法医学]。Int。热学杂志，25(2016)[6- 7]。

Forensic science international. Genetics Pub Date : 2025-02-01 Epub Date: 2024-08-05 DOI: 10.1016/j.fsigen.2024.103120

引用次数: 0

Expression of concern "Population data of 17 Y-STR haplotypes in Jining Han population from Shandong province, East China" [Forensic Sci. Int. Genet. 19 (2015) 47-49]. 《山东省济宁市汉族人群17个Y-STR单倍型的种群数据》[法医学]；Int。热那亚，19(2015)47-49。

Forensic science international. Genetics Pub Date : 2025-02-01 Epub Date: 2024-08-08 DOI: 10.1016/j.fsigen.2024.103117

引用次数: 0

Expression of concern: "Genetic polymorphisms of 17 Y chromosomal STRs in She and Manchu ethnic populations from China" [Forensic Sci. Int.: Genet. 22 (2016) e12-e14]. 关注表达：“中国畲族和满族人群中17个Y染色体STRs的遗传多态性”[法医科学]。Int。[j].热学杂志，22 (2016)e12-e14。

Forensic science international. Genetics Pub Date : 2025-02-01 Epub Date: 2024-08-03 DOI: 10.1016/j.fsigen.2024.103114

引用次数: 0

Expression of Concern "Population genetics of 17 Y-STR loci in a large Chinese Han population from Zhejiang Province, Eastern China" [Forensic Sci. Int. Genet. 5 (2011) e11-e13]. 关注表达“中国东部浙江省大型汉族人群中17个Y-STR位点的群体遗传学”[法医学]。Int。热学杂志，5(2011)[11- 13]。

Forensic science international. Genetics Pub Date : 2025-02-01 Epub Date: 2024-08-05 DOI: 10.1016/j.fsigen.2024.103118

引用次数: 0

Expression of Concern: "Genetic population data of Yfiler Plus kit from 1434 unrelated Hans in Henan Province (Central China)" [Forensic Sci. Int. Genet. 22 (2016) e25-e27]. 关注表达：《河南省1434名无亲缘关系汉族的Yfiler Plus试剂盒遗传群体数据》法医科学。Int。热学杂志，22 (2016)e25-e27。

Forensic science international. Genetics Pub Date : 2025-02-01 Epub Date: 2024-08-05 DOI: 10.1016/j.fsigen.2024.103121

引用次数: 0