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Forensic investigative genetic genealogy based on low-quality DNA whole genome sequencing data 基于低质量DNA全基因组测序数据的法医调查遗传谱系。
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-23 DOI: 10.1016/j.fsigen.2025.103417
Jingwei Lu , Jing Liu , Jing Li , Li Jiang , Meng Ni , Wenting Zhao , Lv Dai , Chuantong Zhao , Caixia Li
Single nucleotide polymorphism (SNP) microarray technology is widely used for data acquisition in Forensic Investigative Genetic Genealogy (FIGG), but it requires high-quality DNA. Previous studies have demonstrated that whole-genome sequencing (WGS) outperforms SNP microarray technology in genotyping forensic trace and degraded DNA, improving both SNP call rates and genotyping concordance. This study evaluates the accuracy of FIGG using WGS data from low-quality DNA. We performed WGS on DNA samples with varying input amounts (1.0–0.05 ng) and different degrees of fragmentation (500–50 bp). We extracted 645,199 autosomal SNPs corresponding to a SNP microarray and conducted kinship analysis using identity-by-descent via identical-by-state. Results indicated that FIGG accuracy for 0.5 ng DNA input matched that of 200 ng DNA. Likewise, samples with an average fragment length of 200 bp demonstrated accuracy comparable to non-degraded DNA. However, when DNA input quantities fell below 0.2 ng or average fragment length was shorter than 100 bp, genealogy inference accuracy significantly decreased (P < 0.05). We further confirmed that genotype imputation technology could significantly improve genealogy inference accuracy of low-quality DNA sequencing data. All imputed samples (0.2 ng, 0.1 ng, 0.05 ng, 100 bp, 50 bp) showed no significant differences in genealogy inference accuracy compared to standard samples (200 ng DNA and non-degraded DNA) (P > 0.05). These research findings have important implications for forensic practice, providing methodological guidance for kinship inference of low-quality DNA samples.
单核苷酸多态性(SNP)微阵列技术被广泛应用于法医调查遗传谱系(FIGG)的数据采集,但它需要高质量的DNA。先前的研究表明,全基因组测序(WGS)在法医痕量DNA和降解DNA的基因分型方面优于SNP微阵列技术,提高了SNP调用率和基因分型一致性。本研究使用来自低质量DNA的WGS数据来评估FIGG的准确性。我们对不同输入量(1.0-0.05 ng)和不同破碎程度(500-50 bp)的DNA样本进行了WGS。我们提取了与SNP微阵列相对应的645,199个常染色体SNP,并通过身份-状态进行了亲属关系分析。结果表明,0.5 ng DNA输入的FIGG精度与200 ng DNA输入的FIGG精度相匹配。同样,平均片段长度为200 bp的样品显示出与未降解DNA相当的准确性。而当DNA输入量低于0.2 ng或平均片段长度小于100 bp时,家谱推断精度显著降低(P  0.05)。这些研究结果对法医实践具有重要意义,为低质量DNA样本的亲属关系推断提供了方法学指导。
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引用次数: 0
Post-mortem genetic testing: Role in sudden cardiac death in the young 死后基因检测:在年轻人心脏性猝死中的作用。
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-20 DOI: 10.1016/j.fsigen.2025.103414
Cecilia Salzillo , Andrea Marzullo
Sudden cardiac death in the young (SCDY) poses a significant challenge to modern medicine, frequently leaving its cause unidentified even after a conventional autopsy. Postmortem genetic testing, which incorporates genetic analysis into post-mortem investigations, is increasingly recognised as a vital tool for uncovering underlying genetic factors. This opinion article explores the importance of post-mortem genetic testing in enhancing the understanding of SCDY, highlighting its diagnostic potential, clinical implications for family members, and its role in advancing healthcare research and organisation.
年轻人心脏性猝死(SCDY)对现代医学提出了重大挑战,即使在常规尸检后,其原因也经常无法确定。死后基因检测,将遗传分析纳入死后调查,越来越被认为是发现潜在遗传因素的重要工具。这篇观点文章探讨了死后基因检测在提高对SCDY的认识方面的重要性,强调了它的诊断潜力、对家庭成员的临床意义,以及它在促进医疗保健研究和组织方面的作用。
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引用次数: 0
The impact of illicit drugs on DNA extraction efficiency 非法药物对DNA提取效率的影响。
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-19 DOI: 10.1016/j.fsigen.2025.103413
Madison Nolan , K. Paul Kirkbride , Adrian Linacre
The analysis of illicit drugs for the presence of human DNA provides an opportunity to gain greater information on ‘who’ is involved in the illicit drug supply chain, complementing the existing chemical profiling techniques to identify ‘what’ and ‘where’. Given the known inhibitory effect of numerous illicit drugs and related compounds on PCR, it is crucial to understand the effectiveness of currently used DNA extraction kits to successfully remove these compounds while extracting sufficient DNA for downstream DNA profiling. To do this, four common illicit drugs (methamphetamine HCl, heroin HCl, MDMA HCl and GHB Na) in addition to two precursors of methamphetamine (pseudoephedrine HCl and phenyl-2-propanone) were spiked with saliva and DNA extracted. Two DNA extraction kits were selected to evaluate columns compared to beads, the QIAGEN QIAamp® DNA Investigator kit and the Promega DNA IQ™ system. DNA quantification of these samples yielded significantly more DNA recovery for each drug, except P2P, when extracted using DNA Investigator. Similarly, peak heights and heterozygous peak height balance were, on average, improved when samples were extracted with DNA Investigator compared to DNA IQ. Regardless of drug or extraction kit, no inhibition was detected during DNA quantification or profiling, indicating reduced DNA yields were caused by inefficient DNA extraction rather than inhibition of the PCR processes. All samples extracted using DNA Investigator yielded complete DNA profiles while DNA IQ yielded near-complete profiles, ultimately resulting in extremely strong likelihood ratio values from all samples. The generation of informative DNA profiles, despite the presence of illicit drugs, using two commercially available DNA extraction kits highlights the potential to implement these sample types into operational laboratories.
对非法药物进行人类DNA分析提供了一个机会,可以获得更多关于“谁”参与非法药物供应链的信息,补充现有的化学分析技术,以确定“是什么”和“在哪里”。鉴于已知许多非法药物和相关化合物对PCR的抑制作用,了解目前使用的DNA提取试剂盒的有效性至关重要,以成功去除这些化合物,同时提取足够的DNA用于下游DNA分析。为此,在唾液和提取的DNA中加入了四种常见的非法药物(甲基苯丙胺HCl、海洛因HCl、MDMA HCl和GHB Na)以及两种甲基苯丙胺前体(伪麻黄碱HCl和苯基-2-丙烷)。选择两种DNA提取试剂盒来评估柱与珠、QIAGEN QIAamp®DNA调查者试剂盒和Promega DNA IQ™系统。当使用DNA调查员提取这些样品时,除P2P外,每种药物的DNA定量回收率显著提高。同样,与DNA IQ相比,用DNA调查员提取样品时,峰高和杂合峰高平衡平均得到改善。无论使用何种药物或提取试剂盒,在DNA定量或分析过程中均未检测到抑制作用,表明DNA产量降低是由于DNA提取效率低下而不是PCR过程的抑制。使用DNA调查员提取的所有样本都获得了完整的DNA图谱,而DNA IQ则获得了近乎完整的图谱,最终从所有样本中获得了极高的似然比值。尽管存在非法药物,但利用两种市售的DNA提取试剂盒生成了信息丰富的DNA图谱,突出了将这些样品类型应用于业务实验室的潜力。
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引用次数: 0
LAMPSEQ: Colorimetric LAMP and nanopore sequencing for rapid species identification in the illegal wildlife trade LAMPSEQ:比色LAMP和纳米孔测序在非法野生动物贸易中的快速物种鉴定
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-18 DOI: 10.1016/j.fsigen.2025.103412
O. Yugovich , S. Sturrock , V. Cave , S.A. Harbison
The illegal ivory trade in animal parts such as ivory, horn, and bone, threatens the survival of many protected species including elephants, rhinoceros, hippopotamus, and walrus. Accurate and reliable species identification is critical for enforcement under CITES, yet traditional DNA-based methods are time-consuming, resource-intensive, and are often inaccessible in regions most affected by poaching. This proof-of-concept study presents a rapid, portable, two-step workflow combining colorimetric loop-mediated isothermal amplification (LAMP) with nanopore sequencing for the authentication of elephant ivory and its legal and illegal substitutes. Novel LAMP assays were developed for elephants, mammoths, rhinoceros, hippopotamus, walrus, water buffalo, and common domestic species, targeting conserved mitochondrial DNA regions to enable both presumptive detection and sequencing-based confirmation. Using synthetic DNA, all assays demonstrated high sensitivity, with limits of detection down to 1–100 fg, with good consistency between replicates. A multiplexing strategy was designed to group closely related species into a single assay. Separate assays were designed for all elephant species, all mammoths, and the two closely related rhinoceros species (R. sondaicus and R. unicornis), enabling rapid presumptive screening followed by species-level confirmation via sequencing. To address challenges associated with the tandem repeats present in LAMP products, LAMPSEQ, a custom bioinformatics pipeline, was developed to extract, align, and accurately identify species from LAMP sequencing data. This sensitive, scalable, and field-deployable workflow expands the molecular toolkit, delivering innovative solutions to wildlife crime investigations and supports the protection of the world’s most vulnerable and treasured species from extinction.
象牙、角和骨头等动物器官的非法象牙贸易威胁着许多受保护物种的生存,包括大象、犀牛、河马和海象。准确可靠的物种鉴定对于CITES的执法至关重要,但传统的基于dna的方法耗时、资源密集,而且在受偷猎影响最严重的地区往往难以获得。这项概念验证研究提出了一种快速、便携、两步的工作流程,将比色环介导等温扩增(LAMP)与纳米孔测序相结合,用于象牙及其合法和非法替代品的认证。针对大象、猛犸象、犀牛、河马、海象、水牛和常见家养物种开发了新的LAMP检测方法,针对保守的线粒体DNA区域,以实现假设检测和基于测序的确认。使用合成DNA,所有分析都显示出高灵敏度,检测限低至1-100 fg,重复之间具有良好的一致性。设计了一种多路复用策略,将密切相关的物种分组到单个分析中。针对所有大象物种、所有猛犸象以及两种密切相关的犀牛物种(sondaicus犀牛和独角兽犀牛)设计了单独的分析,从而实现了快速的推定筛选,然后通过测序进行物种水平的确认。为了解决LAMP产品中串联重复序列相关的挑战,LAMPSEQ是一种定制的生物信息学管道,用于从LAMP测序数据中提取、比对和准确识别物种。这种敏感的、可扩展的、可现场部署的工作流程扩展了分子工具包,为野生动物犯罪调查提供了创新的解决方案,并支持保护世界上最脆弱和最珍贵的物种免于灭绝。
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引用次数: 0
Likelihood ratio estimation of partial Y-STR profile matches using discrete Laplace models and marginalisation 使用离散拉普拉斯模型和边缘化的部分Y-STR剖面匹配的似然比估计。
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-16 DOI: 10.1016/j.fsigen.2025.103411
Tóra Oluffa Stenberg Olsen , Poul Svante Eriksen , Niels Morling , Mikkel Meyer Andersen
The discrete Laplace model can be used to estimate the evidential weight of a match between the Y-chromosome short tandem repeat (Y-STR) DNA profiles of the evidence material and a suspect. When the weight of evidence of a match between partial Y-STR profiles is assessed, a discrete Laplace model, restricted to the observed loci in the partial evidence profile, is constructed. However, fitting such a discrete Laplace model is time-consuming since it requires estimating the parameters of the discrete Laplace model and validating the model. We implemented the marginalisation method for discrete Laplace models to estimate the evidential weight of a match between a partial Y-STR evidence profile and a Y-STR reference profile. Since the marginalisation method is based on discrete Laplace models for complete Y-STR profiles, no additional models need to be constructed. We compared the likelihood ratios (LRs) obtained with (1) the marginalisation method and (2) by fitting new discrete Laplace models restricted to the observed loci in the partial evidence profile. In most cases, the two methods yielded similar LRs, differing by a factor less than 10. Although rare, large differences in the LRs obtained from the two methods were also observed. If all LRs were restricted to at most 1,000,000, then ca. 1.8%, 0.16%, and 0.007% of the cases resulted in differences in LRs between the two methods that were larger than factors of 10,100, and 1,000, respectively. Given the similar performance of the two methods, the reduced computational cost of the marginalisation method makes it a more practical and time-efficient choice for forensic applications.
离散拉普拉斯模型可用于估计证据材料与嫌疑人的y染色体短串联重复序列(Y-STR) DNA谱匹配的证据权重。当评估部分Y-STR谱之间匹配证据的权重时,构建一个仅限于部分证据谱中观察到的位点的离散拉普拉斯模型。然而,拟合这样一个离散拉普拉斯模型是耗时的,因为它需要估计离散拉普拉斯模型的参数和验证模型。我们实现了离散拉普拉斯模型的边缘化方法,以估计部分Y-STR证据剖面和Y-STR参考剖面之间匹配的证据权重。由于边缘化方法是基于完整Y-STR剖面的离散拉普拉斯模型,因此不需要构建额外的模型。我们比较了(1)边缘化方法和(2)拟合新的离散拉普拉斯模型得到的似然比(LRs),这些模型仅限于部分证据剖面中观察到的位点。在大多数情况下,这两种方法产生相似的LRs,差异小于10倍。虽然罕见,但也观察到两种方法获得的LRs有很大差异。如果所有的LRs被限制在最多1,000,000个,那么大约1.8%、0.16%和0.007%的病例导致两种方法之间LRs的差异分别大于10,100和1,000的因子。鉴于两种方法的相似性能,边缘化方法的计算成本降低,使其成为法医应用中更实用和更省时的选择。
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引用次数: 0
Using autosomal and X-chromosomal SNPs to identify a victim of the 1956 Marcinelle mining disaster 使用常染色体和x染色体snp来识别1956年马西内勒矿难的受害者。
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-12 DOI: 10.1016/j.fsigen.2025.103409
Magnus D. Vigeland , Stijn Desmyter , Pernilla Haage , Henrik Nordtorp , Femke Van Puymbrouck , Adam Staadig , Andreas Tillmar , Beatrijs Vanhooydonck , Thore Egeland
The 1956 mining disaster in Marcinelle, Belgium, claimed 262 lives, among them 14 victims who could not be identified at the time. Their remains were exhumed in 2021 for identification, including DNA testing. We report here on the successful genetic identification of one of these victims, achieved by matching against three distant relatives using the FORCE SNP panel. In addition to likelihood ratio (LR) calculations, we implemented a novel identity-by-descent (IBD) segment detector suitable for low-density SNP panels and applied it to both the autosomal and X-chromosomal data. This study confirms that SNP panels can resolve long-standing missing person cases by matching against distant relatives, and highlights the utility of IBD segment detection as a supplement to LRs in such cases. Finally, it demonstrates the power of X-chromosomal SNP analysis when the pedigree permits it.
1956年比利时Marcinelle矿难造成262人死亡,其中14人当时身份不明。他们的遗体于2021年被挖掘出来进行身份鉴定,包括DNA测试。我们在这里报告了其中一个受害者的成功基因鉴定,通过使用FORCE SNP面板与三个远亲进行匹配实现。除了似然比(LR)计算外,我们还实施了一种适用于低密度SNP面板的新型血统识别(IBD)片段检测器,并将其应用于常染色体和x染色体数据。该研究证实,SNP面板可以通过与远亲进行匹配来解决长期存在的失踪人员病例,并强调了IBD片段检测在这种情况下作为LRs补充的实用性。最后,它证明了x染色体SNP分析的力量,如果家谱允许的话。
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引用次数: 0
CRISPR/Cas12a coupled with MIRA: A specific and rapid assay for human DNA in challenging forensic matrices CRISPR/Cas12a与MIRA结合:在具有挑战性的法医基质中对人类DNA进行特异性和快速检测。
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-08 DOI: 10.1016/j.fsigen.2025.103393
Si-rui Li , Yang Li , Kai-bo Yang , Si-wen Wang , Mao-ling Sun , Zhenze Liu , Xiu-peng Zhang , Yang Zhong , Jun Yao
Human DNA detection is crucial in forensic medicine, particularly for trace, degraded, or mixed samples, which demand high sensitivity, specificity, and rapid processing. Traditional methods, such as immunological assays and PCR-based techniques, often suffer from operational complexity, limited sensitivity, or high equipment dependency. To address these challenges, we developed a novel detection system combining multienzyme isothermal rapid amplification (MIRA) with CRISPR-Cas12a for the rapid, specific, and portable human DNA identification. By targeting the human mitochondrial cytochrome b (CYTB) gene and sex-determining Region Y(SRY) gene, we designed MIRA primers and CRISPR-Cas12a crRNA to enable dual recognition and signal amplification. The method involves isothermal amplification at 37°C followed by CRISPR-Cas12a-mediated cleavage, producing detectable fluorescence or lateral flow chromatographic signals. Our system achieves ultra-sensitive detection and high specificity, distinguishing human DNA from non-human sources (e.g., pig, chicken, mouse), and also enables accurate gender identification, further enhancing its utility in forensic and genetic studies. Compared to traditional qPCR, this approach demonstrates superior sensitivity, faster turnaround (≤ 45 min), and minimal equipment requirements, making it ideal for forensic applications. Moreover, the blood, mixed, and degraded samples were used to confirm its robustness, with results interpretable via blue-light fluorescence or colloidal gold test strips. In summary, the MIRA-CRISPR/Cas12a system overcomes the limitations of conventional techniques, offering a rapid, cost-effective, and reliable solution for forensic human DNA identification, with potential extensions to wildlife conservation and food safety testing.
人类DNA检测在法医学中至关重要,特别是对于痕量、降解或混合样品,这需要高灵敏度、特异性和快速处理。传统的方法,如免疫测定和基于pcr的技术,通常存在操作复杂、灵敏度有限或高度依赖设备的问题。为了解决这些挑战,我们开发了一种结合多酶等温快速扩增(MIRA)和CRISPR-Cas12a的新型检测系统,用于快速、特异性和便携式的人类DNA鉴定。通过针对人线粒体细胞色素b (CYTB)基因和性别决定区Y(SRY)基因,我们设计了MIRA引物和CRISPR-Cas12a crRNA,实现了双重识别和信号扩增。该方法包括在37°C下等温扩增,然后通过crispr - cas12a介导的裂解,产生可检测的荧光或侧流色谱信号。我们的系统实现了超灵敏的检测和高特异性,区分人类DNA和非人类来源(如猪,鸡,老鼠),并且还可以准确地识别性别,进一步增强其在法医和遗传研究中的应用。与传统的qPCR相比,该方法具有优越的灵敏度,更快的周转时间(≤45 min)和最小的设备要求,使其成为法医应用的理想选择。此外,血液、混合和降解样品被用来确认其稳健性,结果可通过蓝光荧光或胶体金试纸解释。综上所述,MIRA-CRISPR/Cas12a系统克服了传统技术的局限性,为法医人类DNA鉴定提供了一种快速、经济、可靠的解决方案,具有扩展到野生动物保护和食品安全检测的潜力。
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引用次数: 0
Construction and validation of a rapid semen identification system based on SHERLOCK technology 基于SHERLOCK技术的精液快速鉴定系统的构建与验证
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-06 DOI: 10.1016/j.fsigen.2025.103410
Yu Luo , Xianmiao Wang , Fan Yang , Yixia Zhao , Sheng Hu , Shuyu Liu , Shuang Li , Guochang Luo , Qifan Sun
This study developed a rapid detection system for semen-specific mRNA based on CRISPR/Cas13a system to meet the timeliness requirements of forensic on-site body fluid identification. Specific primers and CRISPR RNA (crRNA) short fragments on semen specific mRNA genes were designed and screened, to establish a SHERLOCK detection method based on technology principles of CRISPR/Cas. Furthermore, nucleic acid rapid release agents for treating samples were screend to construct a new detection method in combination with SHERLOCK, and the specificity and sensitivity of the method were tested. The method can rapidly detect the presence of semen from unknown body fluid samples, and the relative fluorescence unit (RFU) value of the semen sample is significantly higher than those of non-semen samples (P < 0.0001), with a sample detection sensitivity of down to 0.25 μL. The construction of the rapid semen detection method using rapid extraction and SHERLOCK reduces operation time, significantly reduces instrument dependence, and provides an innovative solution for forensic on-site rapid body fluid identification.
本研究开发了基于CRISPR/Cas13a系统的精液特异性mRNA快速检测系统,以满足法医现场体液鉴定的时效性要求。设计并筛选精液特异性mRNA基因上的特异性引物和CRISPR RNA (crRNA)短片段,建立基于CRISPR/Cas技术原理的SHERLOCK检测方法。筛选处理样品的核酸快速释放剂,与SHERLOCK联合构建新的检测方法,并对该方法的特异性和敏感性进行检验。该方法可快速检测未知体液样本中精液的存在,且精液样本的相对荧光单位(RFU)值显著高于非精液样本(P
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引用次数: 0
Methylation-based forensic age estimation on different biogeographic backgrounds: A study on Central Europeans, East Asians and West Africans 不同生物地理背景下基于甲基化的法医年龄估计:中欧、东亚和西非的研究。
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-01 DOI: 10.1016/j.fsigen.2025.103397
Charlotte Sutter , Ruiyang Tao , Shouyu Wang , Yaw Agyekum Boaitey , Alex Owusu-Ofori , Cordula Haas , Jacqueline Neubauer
In recent years, the estimation of the age of a stain donor through DNA methylation has received much attention in the forensic genetics community. It can provide investigative leads for law enforcement when no DNA profile match could be obtained from a crime scene stain. It has been shown that different human populations can have systematically different methylation profiles. This raises the question whether the age of individuals from different biogeographic backgrounds is estimated with different accuracies using forensic age estimation tools.
In our study, we investigated 30 individuals each from Central Europe, East Asia and West Africa. All individuals donated blood, saliva and buccal cell samples and each sample was analyzed with two forensic age estimation tools (VISAGE enhanced tool and Jung et al. SNaPshot tool).
Our study showed that there were no statistically significant differences in age estimation accuracy between the three investigated populations regardless of the body fluid or age estimation tool used. The only exception was in the saliva samples, which showed statistically significant differences in age estimation errors with the VISAGE enhanced tool when comparing the East Asian and West African groups. Including knowledge about the biogeographic origin of a stain donor might therefore not be as important as previously assumed.
近年来,通过DNA甲基化来估计染色供体的年龄受到了法医遗传学界的广泛关注。当无法从犯罪现场的污点中获得匹配的DNA图谱时,它可以为执法部门提供调查线索。研究表明,不同的人群可能具有系统不同的甲基化谱。这就提出了一个问题,即使用法医年龄估计工具,对来自不同生物地理背景的个体的年龄估计是否具有不同的准确性。在我们的研究中,我们调查了来自中欧、东亚和西非的30个人。所有人都捐献了血液、唾液和颊细胞样本,并使用两种法医年龄估计工具(VISAGE增强工具和Jung等)对每个样本进行分析。快照工具)。我们的研究表明,无论使用何种体液或年龄估计工具,三个调查人群之间的年龄估计准确性没有统计学上的显著差异。唯一的例外是唾液样本,在比较东亚和西非组时,使用VISAGE增强工具的年龄估计误差在统计上有显著差异。因此,包括关于染色供体的生物地理起源的知识可能不像以前认为的那么重要。
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引用次数: 0
Forensic geolocation of Norwegian soil samples using random forest analysis of microbiomes 利用随机森林微生物组分析对挪威土壤样本进行法医地理定位
IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2025-11-28 DOI: 10.1016/j.fsigen.2025.103408
Aurora Hofsvang , Eirik Natås Hanssen , Eric Jacques de Muinck , Pål Trosvik , Ane Elida Fonneløp
Soil is a substrate easily picked up during everyday activities due to its ubiquity and adhesiveness. A method to determine the origin of soil precisely would therefore be useful in forensic casework as it can provide insight into a person`s or object`s previous whereabouts. To evaluate the potential of microbiomes for soil provenance determination, we collected soil samples from 15 locations in and around Oslo, Norway. Samples were collected multiple times from the same locations to assess changes in the microbiome over time. Additionally, a mock soil stain on clothing sample was collected at each site to validate this sample type. The microbial composition of samples was determined via amplicon sequencing of the V4 region of the 16S rRNA bacterial gene. Our results showed that the microbiomes were significantly impacted by location, with both soil and soil stain samples from the same site mainly exhibiting greater similarity than those from different sites. Notably, seasonal variations affected microbiome composition, leading to significant changes in some locations. Machine learning was employed to associate samples with their geographic origins, achieving classification accuracies above 85 % for both soil stain samples and soil samples collected within one week of each other. However, accuracies were lower for samples collected across different seasons, between 55 % and 64 %, indicating that temporal variation can limit the reliability of soil microbiome analysis when there is a delay between sample collection times.
土壤是一种很容易在日常活动中拾取的基质,因为它的无处不在和粘附性。因此,精确确定土壤来源的方法在法医案件工作中是有用的,因为它可以提供对一个人或物体以前行踪的洞察。为了评估微生物组测定土壤来源的潜力,我们从挪威奥斯陆及其周围的15个地点收集了土壤样本。从同一地点多次收集样本,以评估微生物组随时间的变化。此外,在每个地点收集衣服样本上的模拟土壤污渍来验证这种样本类型。通过16S rRNA细菌基因V4区扩增子测序确定样品的微生物组成。结果表明,土壤微生物组受地理位置的影响显著,同一地点的土壤和土壤染色样品的相似性高于不同地点的土壤和染色样品。值得注意的是,季节变化影响了微生物组的组成,导致一些地区发生了显著变化。使用机器学习将样品与其地理来源关联起来,对于土壤染色样品和一周内收集的土壤样品,分类精度均超过85% %。然而,在不同季节收集的样品的准确性较低,在55% %和64 %之间,这表明当样品收集时间之间存在延迟时,时间变化会限制土壤微生物组分析的可靠性。
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引用次数: 0
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Forensic Science International-Genetics
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