Forensic Science International-Genetics最新文献

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A mathematical framework for genetic relatedness analysis involving X chromosome aneuploidies 涉及 X 染色体非整倍体的遗传亲缘关系分析数学框架。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-31 DOI: 10.1016/j.fsigen.2024.103128
Marisa Faustino , Leonor Gusmão , António Amorim , Daniel Kling , Nádia Pinto
{"title":"A mathematical framework for genetic relatedness analysis involving X chromosome aneuploidies","authors":"Marisa Faustino ,&nbsp;Leonor Gusmão ,&nbsp;António Amorim ,&nbsp;Daniel Kling ,&nbsp;Nádia Pinto","doi":"10.1016/j.fsigen.2024.103128","DOIUrl":"10.1016/j.fsigen.2024.103128","url":null,"abstract":"<div><p>The unique features of the X chromosome can be crucial to complement autosomal profiling or to disentangle complex kinship problems, providing in some cases a similar or even greater power than autosomes in paternity/maternity investigations. While theoretical and informatics approaches for pairwise X-linked kinship analyses are well established for euploid individuals, these are still lacking for individuals with an X chromosome aneuploidy. To trigger the fulfilment of this gap, this research presents a mathematical framework that enables the quantification of DNA evidence in pairwise kinship analyses, involving two non-inbred individuals, one of whom with a non-mosaic X chromosome aneuploidy: Trisomy X (47, XXX), Klinefelter (47, XXY) or Turner (45, X0) syndrome. As previously developed for a regular number of chromosomes, this approach relies on the probability of related individuals sharing identical-by-descent (IBD) alleles at one specific locus and it can be applied to any set of independently transmitted markers, with no gametic association in the population. The kinship hypotheses mostly considered in forensic casework are specifically addressed in this work, but the reasoning and procedure can be applied to virtually any pairwise kinship problem under the referred assumptions. Algebraic formulae for joint genotypic probabilities cover all the possible genotypic configurations and pedigrees. Compared with the analyses assuming individuals with a regular number of chromosomes, complicating factors rely on the different possibilities for both the parental origin of the error (either maternal or paternal), and the type of error occurred (either meiotic or post-zygotic mitotic). These imply that a non-inbred female with Triple X or a male with Klinefelter syndrome may carry two IBD alleles at the same locus. Thus, and contrarily to what occurs for the standard case, IBD partitions depend not only on the kinship hypothesis under analysis but also on the genotypic configuration of the analyzed individuals. For some cases, parameters of interest can be inferred, while for others recommended values based on the available literature are provided. This work is the starting point to analyze X-chromosomal data under the scope of kinship problems, involving individuals with aneuploidies, as it will enhance the quantification of the DNA evidence not only in forensics but also in the medical genetics field. We hope it will trigger the development of approaches including other complicating factors, as a greater number of individuals, possibility of the occurrence of mutations and/or silent alleles, as well as the analysis of linked markers.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103128"},"PeriodicalIF":3.2,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324001248/pdfft?md5=1be7df89b7b68597975297630b20e6ad&pid=1-s2.0-S1872497324001248-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147178","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}
引用次数: 0
Comparison of next generation sequencing (NGS) - (SNPs) and capillary electrophoresis (CE) - (STRs) in the genetic analysis of human remains 下一代测序(NGS)--(SNPs)与毛细管电泳(CE)--(STRs)在人类遗骸基因分析中的比较。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-30 DOI: 10.1016/j.fsigen.2024.103131
Stavros Kokotas , Bruce Budowle , Athanasios Papatheodorou , Eugenia Bolanaki , Aikaterini Kondili , Aristea Metheniti , Maria Vouropoulou , Georgios Koukouvinos , Emmanouil Palaigeorgiou , Polyzois Makras
{"title":"Comparison of next generation sequencing (NGS) - (SNPs) and capillary electrophoresis (CE) - (STRs) in the genetic analysis of human remains","authors":"Stavros Kokotas ,&nbsp;Bruce Budowle ,&nbsp;Athanasios Papatheodorou ,&nbsp;Eugenia Bolanaki ,&nbsp;Aikaterini Kondili ,&nbsp;Aristea Metheniti ,&nbsp;Maria Vouropoulou ,&nbsp;Georgios Koukouvinos ,&nbsp;Emmanouil Palaigeorgiou ,&nbsp;Polyzois Makras","doi":"10.1016/j.fsigen.2024.103131","DOIUrl":"10.1016/j.fsigen.2024.103131","url":null,"abstract":"<div><p>A pilot study was performed using two different DNA technology platforms conducted by two laboratories to analyze DNA extracted from 83-year-old, human male skeletal remains from 16 individuals, of which there are no other viable means to identify these war victims. The workflow of the more recent developed ForenSeq Kintelligence Kit and next generation sequencing was compared to that of the standard capillary electrophoresis – short tandem repeat (STR) method (Power Plex ESX17 and Y23 Systems). The findings indicate that greater amount of useful genetic data can be gained with the Kintelligence system across the range of samples under study and particularly for samples in which partial or no STR profiles are obtained. SNP data are more likely to be obtained from degraded samples, like the ones analyzed in this study. Moreover, high volume SNP data are suitable for long distance kinship associations and genetic genealogy databases to develop more investigative leads for future kinship and missing persons cases, a process not feasible by STR typing.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103131"},"PeriodicalIF":3.2,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147179","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}
引用次数: 0
Transfer and persistence of intruder DNA within an office after reuse by owner 入侵者的 DNA 被主人重复使用后在办公室内的转移和持久性
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-28 DOI: 10.1016/j.fsigen.2024.103130
Monique Zacher , Roland A.H. van Oorschot , Oliva Handt , Mariya Goray
{"title":"Transfer and persistence of intruder DNA within an office after reuse by owner","authors":"Monique Zacher ,&nbsp;Roland A.H. van Oorschot ,&nbsp;Oliva Handt ,&nbsp;Mariya Goray","doi":"10.1016/j.fsigen.2024.103130","DOIUrl":"10.1016/j.fsigen.2024.103130","url":null,"abstract":"<div><p>The heightened sensitivity of DNA typing techniques, paired with the extensive use of trace DNA in forensic investigations, has resulted in an increased need to understand how and when DNA is deposited on surfaces of interest. This study focussed on the transfer, persistence, and prevalence of trace DNA in a single occupation of an office space by an intruder, when all contacts made during occupation and for the two hours prior and post occupation were known. The extent to which DNA could be recovered from contacted/not contacted surfaces was investigated. This study investigates the impacts of these movements and use of an office space when the duration of occupancy, surface contact histories and shedder status of participants are known. Contacts were documented and surfaces in the office space were targeted for sampling. Categories were set for target sampling that included different types of contact. Direct and indirect DNA transfer was detected in 55 % and 6 % of samples, respectively. Contactless DNA transfer was detected in 0.5 % of samples. The owner was observed as the sole/major/majority contributor in 77 % of the samples and as minor contributor in 10 % of samples. The intruder was observed as the sole/major/majority contributor in 14 % of samples and as the minor contributor in 16 %. An increased number of contacts increased the relative DNA contribution of the individual making the contact, however, not all observed direct contacts resulted in detectable DNA transfer. The outcome of this study will aid in better sample targeting strategies and contribute to the pool of data assisting in the development of activity level assessments.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103130"},"PeriodicalIF":3.2,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324001261/pdfft?md5=6ce733f1573f85b0673f497af5641fc0&pid=1-s2.0-S1872497324001261-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094626","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}
引用次数: 0
Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform 在 DNA 纳米球测序平台上采用长片段扩增策略构建的 mtDNA 全基因组测序系统的法医效率评估
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-22 DOI: 10.1016/j.fsigen.2024.103126
Man Chen , Chong Chen , Ning Li , Yuerong Su , Wei Cui , Yan Huang , Meiming Cai , Bofeng Zhu
{"title":"Forensic efficiency evaluation of a mtDNA whole genome sequencing system constructed with long fragment amplification strategy on DNA nanoball sequencing platform","authors":"Man Chen ,&nbsp;Chong Chen ,&nbsp;Ning Li ,&nbsp;Yuerong Su ,&nbsp;Wei Cui ,&nbsp;Yan Huang ,&nbsp;Meiming Cai ,&nbsp;Bofeng Zhu","doi":"10.1016/j.fsigen.2024.103126","DOIUrl":"10.1016/j.fsigen.2024.103126","url":null,"abstract":"<div><p>Mitochondrial DNA (mtDNA) is an important genetic marker for degraded biological sample identification, maternal pedigree tracing, and population genetic structure study owing to its characteristics of high copy number, anti-degradable ring structure, and maternal inheritance. Whole mtDNA genome sequencing is an optimal method for the analysis of mtDNA polymorphism and heterogeneity because it allows for the comprehensive use of maternal genetic information. However, because of lacking quantitative evaluations for sequencing data, the scientific interpretation standards for mtDNA sequencing results of the previously used sequencing systems are often different, and false positive or false negative results are prone to occur when faced with the interference of nuclear genomic DNA, or the heterogeneities of mtDNA sequence and structure. In this study, we evaluated a novel mtDNA whole genome sequencing system using long fragment amplification strategy on the DNA nanoball (DNB) sequencing platform. This system demonstrated high sequencing quality and specific mtDNA sequencing efficiencies on positive control DNA and FTA bloodstain samples, as the average Q20 and Q30 values of the corresponding samples were 97.17 % and 91.93 %; 97.37 % and 92.48 %, respectively. The mean mapping percentages for the reference sequences of whole genome DNA (wgDNA), mtDNA, and nuclear genomic DNA (ngDNA) in the corresponding samples were 99.98 %, 99.97 %, 0.03 %, and 99.91 %, 99.40 %, 0.60 %; respectively. The average error calling rates for the bases A, C, G, and T of the whole mtDNA genome were 0.2519 %, 0.2550 %, 0.2906 %; and 0.2392 %, respectively. The efficacy of heteroplasmy identification was assessed using a set of theoretical sites with predetermined rates. These sites were created by combining the samples with known mtDNA haplotypes in certain proportions. The absolute errors between observed and theoretical heteroplasmy values were 89.59 %, 74.68 %, 50.20 %, 12.65 %, 8.31 %, and 4.85 %, while the theoretical heteroplasmy values were 5 %, 10 %, 20 %, 80 %, 90 %, and 95 %, respectively. The absolute error exhibited relative stability when the mtDNA sequencing depth exceeded 500×. Furthermore, the system sequencing efficiency was also confirmed among different kinds of samples, and these samples included natural samples (e.g., peripheral blood samples preserved on FTA cards for 2 and 11 years, and on filter paper for 6 and 9 years), degraded samples, sensitivity samples, samples derived from various bodily fluids, and maternal pedigree samples. In summary, the whole mtDNA genome sequencing system used for forensic identification demonstrated high performance in analyzing mtDNA sequence information, and showed significant prospects for forensic application and maternal genetic research.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103126"},"PeriodicalIF":3.2,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142094625","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}
引用次数: 0
Comprehensive body fluid identification and contributor assignment by combining targeted sequencing of mRNA and coding region SNPs 通过结合 mRNA 和编码区 SNP 的靶向测序,进行全面的体液鉴定和贡献者分配
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-16 DOI: 10.1016/j.fsigen.2024.103125
Maximilian Neis , Theresa Groß , Harald Schneider , Peter M. Schneider , Cornelius Courts
{"title":"Comprehensive body fluid identification and contributor assignment by combining targeted sequencing of mRNA and coding region SNPs","authors":"Maximilian Neis ,&nbsp;Theresa Groß ,&nbsp;Harald Schneider ,&nbsp;Peter M. Schneider ,&nbsp;Cornelius Courts","doi":"10.1016/j.fsigen.2024.103125","DOIUrl":"10.1016/j.fsigen.2024.103125","url":null,"abstract":"<div><p>Forensic genetic analyses aim to retrieve as much information as possible from biological trace material recovered from crime scenes. While standard short tandem repeat (STR) profiling is essential to individualize biological traces, its significance is diminished in crime scenarios where the presence of a suspect's DNA is acknowledged by all parties. In such cases, forensic (m)RNA analysis can provide crucial contextualizing information on the source level about a trace’s composition, i.e., body fluids/tissues, and has therefore emerged as a powerful tool for modern forensic investigations. However, the question which of several suspects contributed a specific component (body fluid) to a mixed trace cannot be answered by RNA analysis using conventional methods. This individualizing information is stored within the sequence of the mRNA transcripts. Massively parallel sequencing (MPS) represents a promising alternative, offering not only higher multiplex capacity, but also the typing of individual coding region SNPs (cSNPs) to enable the assignment of contributors to mixture components, thereby reducing the risk of association fallacies. Herein, we describe the development of an extensive mRNA/cSNP panel for targeted sequencing on the IonTorrent S5 platform. Our panel comprises 30 markers for the detection of six body fluids/tissues (blood, saliva, semen, skin, vaginal and menstrual secretion), along with 70 linkage-controlled cSNPs for contributor assignment. It exhibited high reliable detection sensitivity with RNA inputs down to 0.75 ng and a conservatively calculated probability of identity of 0.03 – 6 % for individual body fluid-specific cSNP profiles. Limitations and areas for future work include RNA-related allele imbalances, inclusion of markers to correctly identify rectal mucosa and the optimization of specific markers. In summary, our new panel is intended to be a major step forward to interpret biological evidence at sub-source and source level based on cSNP attribution of a body fluid component to a suspect and victim, respectively.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103125"},"PeriodicalIF":3.2,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324001212/pdfft?md5=c9df79a13c65d7776a6353482f2598a4&pid=1-s2.0-S1872497324001212-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142048002","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}
引用次数: 0
Analysis of rapidly mutating Y-STRs enables almost complete discrimination of unrelated and related males from the African continent 对快速变异的 Y-STR 进行分析,几乎可以完全区分非洲大陆无血缘关系的男性和有血缘关系的男性
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-14 DOI: 10.1016/j.fsigen.2024.103127
Filippo Barni, Arwin Ralf, Chiara Della Rocca, Federica Cannistrà, Marco Gigliucci, Beniamino Trombetta, Andrea Berti, Manfred Kayser, Fulvio Cruciani
{"title":"Analysis of rapidly mutating Y-STRs enables almost complete discrimination of unrelated and related males from the African continent","authors":"Filippo Barni,&nbsp;Arwin Ralf,&nbsp;Chiara Della Rocca,&nbsp;Federica Cannistrà,&nbsp;Marco Gigliucci,&nbsp;Beniamino Trombetta,&nbsp;Andrea Berti,&nbsp;Manfred Kayser,&nbsp;Fulvio Cruciani","doi":"10.1016/j.fsigen.2024.103127","DOIUrl":"10.1016/j.fsigen.2024.103127","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103127"},"PeriodicalIF":3.2,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142122179","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}
引用次数: 0
Accounting for site-to-site DNA transfer on a packaged exhibit in an evaluation given activity level propositions 在给定活动水平命题的评估中考虑包装展品上场地到场地的 DNA 转移
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-10 DOI: 10.1016/j.fsigen.2024.103122
Duncan Taylor , Luke Volgin , Bas Kokshoorn
{"title":"Accounting for site-to-site DNA transfer on a packaged exhibit in an evaluation given activity level propositions","authors":"Duncan Taylor ,&nbsp;Luke Volgin ,&nbsp;Bas Kokshoorn","doi":"10.1016/j.fsigen.2024.103122","DOIUrl":"10.1016/j.fsigen.2024.103122","url":null,"abstract":"<div><p>Considering activity level propositions in the evaluation of forensic biology findings is becoming more common place. There are increasing numbers of publications demonstrating different transfer mechanisms that can occur under a variety of circumstances. Some of these publications have shown the possibility of DNA transfer from site to site on an exhibit, for instance as a result of packaging and transport. If such a possibility exists, and the case circumstances are such that the area on an exhibit where DNA is present or absent is an observation that is an important diagnostic characteristic given the propositions, then site to site transfer should be taken into account during the evaluation of observations. In this work we demonstrate the ways in which site to site transfer can be built into Bayesian networks when carrying out activity level evaluations of forensic biology findings. We explore the effects of considering qualitative vs quantitative categorisation of DNA results. We also show the importance of taking into account multiple individual’s DNA being transferred (such as unknown or wearer DNA), even if the main focus of the evaluation is the activity of one individual.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103122"},"PeriodicalIF":3.2,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324001182/pdfft?md5=d88a3b0228010dec730d01fac17384d1&pid=1-s2.0-S1872497324001182-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142002017","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}
引用次数: 0
A multiplex microbial profiling system for the identification of the source of body fluid and skin samples 用于鉴定体液和皮肤样本来源的多重微生物分析系统
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-10 DOI: 10.1016/j.fsigen.2024.103124
Hewen Yao , Yanyun Wang , Shuangshuang Wang , Chaoran Sun , Yuxiang Zhou , Lanrui Jiang , Zefei Wang , Xindi Wang , Zhirui Zhang , Tingting Yang , Feng Song , Haibo Luo
{"title":"A multiplex microbial profiling system for the identification of the source of body fluid and skin samples","authors":"Hewen Yao ,&nbsp;Yanyun Wang ,&nbsp;Shuangshuang Wang ,&nbsp;Chaoran Sun ,&nbsp;Yuxiang Zhou ,&nbsp;Lanrui Jiang ,&nbsp;Zefei Wang ,&nbsp;Xindi Wang ,&nbsp;Zhirui Zhang ,&nbsp;Tingting Yang ,&nbsp;Feng Song ,&nbsp;Haibo Luo","doi":"10.1016/j.fsigen.2024.103124","DOIUrl":"10.1016/j.fsigen.2024.103124","url":null,"abstract":"<div><p>Determining the source of body fluids is crucial in forensic investigations, as it provides valuable information about suspects and the nature of the crime. Microbial markers that trace the source of tissues and body fluids based on site specificity and temporal stability are often used effectively for this purpose. In this study, a multiplex system comprising seven microbial markers (<em>Finegoldia magna</em>, <em>Corynebacterium tuberculostearicum</em>, <em>Cutibacterium acnes</em>, <em>Haemophilus parainfluenzae</em>, <em>Streptococcus oralis</em>, <em>Prevotella melaninogenica</em> and <em>Faecalibacterium prausnitzii</em>) was developed to distinguish between skin, saliva, and feces samples. Based on these markers, the system produces electropherograms that are specific for each sample type. We collected 492 samples from six different skin sites (palm, antecubital crease, inguinal crease, cheek, upper back, and toe web space), the buccal mucosa, and stool were collected to further test the system. Beta diversity analysis revealed distinct clustering among the three sample groups. Additionally, skin microenvironment cluster analysis was used to identify skin sites accurately. This analysis classified skin samples into four distinct microenvironments: dry, moist, oily, and foot. Finally, we established a machine learning prediction model based on random forest regression to identify the skin microenvironment, achieving an overall prediction accuracy of 79 %. The multiplex system developed in this study accurately identifies the sources of body fluids, and the skin microenvironment. These findings offer new insights into the application of microbial markers in forensic science.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103124"},"PeriodicalIF":3.2,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142021333","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}
引用次数: 0
An initial exploration of machine learning for establishing associations between genetic markers and THC levels in Cannabis sativa samples 利用机器学习建立大麻样本中遗传标记与四氢大麻酚水平之间联系的初步探索
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-09 DOI: 10.1016/j.fsigen.2024.103123
Selena Cisana , Michele Di Nunzio , Valentina Brenzini , Monica Omedei , Fabrizio Seganti , Christina Ververi , Enrico Gerace , Alberto Salomone , Andrea Berti , Filippo Barni , Sergio Schiavone , Andrea Coppi , Ciro Di Nunzio , Paolo Garofano , Eugenio Alladio
{"title":"An initial exploration of machine learning for establishing associations between genetic markers and THC levels in Cannabis sativa samples","authors":"Selena Cisana ,&nbsp;Michele Di Nunzio ,&nbsp;Valentina Brenzini ,&nbsp;Monica Omedei ,&nbsp;Fabrizio Seganti ,&nbsp;Christina Ververi ,&nbsp;Enrico Gerace ,&nbsp;Alberto Salomone ,&nbsp;Andrea Berti ,&nbsp;Filippo Barni ,&nbsp;Sergio Schiavone ,&nbsp;Andrea Coppi ,&nbsp;Ciro Di Nunzio ,&nbsp;Paolo Garofano ,&nbsp;Eugenio Alladio","doi":"10.1016/j.fsigen.2024.103123","DOIUrl":"10.1016/j.fsigen.2024.103123","url":null,"abstract":"<div><p><em>Cannabis sativa</em>, a globally commercialized plant used for medicinal, food, fiber production, and recreation, necessitates effective identification to distinguish legal and illegal varieties in forensic contexts. This research utilizes multivariate statistical models and Machine Learning approaches to establish correlations between specific genotypes and tetrahydrocannabinol (Δ<sup>9</sup>-THC) content (%) in <em>C. sativa</em> samples. 132 cannabis leaves samples were obtained from legal growers in Piedmont, Italy, and illegal drug seizures in Turin. Samples were genetically profiled using a 13-loci STR multiplex and their Δ<sup>9</sup>-THC content was detected through quantitative GC-MS analysis. This study aims to assess the use of supervised classification modelling on genetic data to distinguish cannabis samples into legal and illegal categories, revealing distinct clusters characterized by unique allele profiles and THC content. t-distributed Stochastic Neighbor Embedding (t-SNE), Random Forest (RF) and Partial Least Squares Regression (PLS-R) were executed for the machine learning modelling. All the tested models resulted effective discriminating between legal samples and illegal. Although further validation is necessary, this study presents a novel forensic investigative approach, potentially aiding law enforcement in significant marijuana seizures or tracking illicit drug trafficking routes.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103123"},"PeriodicalIF":3.2,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142021336","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}
引用次数: 0
Transfer and recovery of DNA and metal particles: A proof-of-concept application of a parallel strategy by DNA and environmental scanning electron microscopy analysis DNA 和金属颗粒的转移和回收:DNA 与环境扫描电子显微镜分析并行策略的概念验证应用。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-03 DOI: 10.1016/j.fsigen.2024.103113
Arianna Giorgetti , Carla Bini , Sara Amurri , Giulia Fazio , Laura Valentini , Pietro Gobbi , Susi Pelotti
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