Pub Date : 2023-12-13DOI: 10.1080/00450618.2023.2289378
Angela Silva-Bessa, Áurea Madureira-Carvalho, Rui M. S. Azevedo, Lorna Dawson, Ricardo Jorge Dinis-Oliveira, Shari L. Forbes, Maria Teresa Ferreira
Over the last decade, some Portuguese cemeteries have started to have issues with the lack of burial space, mainly due to the slow rate of cadaveric decomposition, hindering the reuse of soil grave...
{"title":"A soil-based approach on human taphonomy from five Portuguese public cemeteries","authors":"Angela Silva-Bessa, Áurea Madureira-Carvalho, Rui M. S. Azevedo, Lorna Dawson, Ricardo Jorge Dinis-Oliveira, Shari L. Forbes, Maria Teresa Ferreira","doi":"10.1080/00450618.2023.2289378","DOIUrl":"https://doi.org/10.1080/00450618.2023.2289378","url":null,"abstract":"Over the last decade, some Portuguese cemeteries have started to have issues with the lack of burial space, mainly due to the slow rate of cadaveric decomposition, hindering the reuse of soil grave...","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"5 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138631998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-10DOI: 10.1080/00450618.2023.2292126
Samantha K. Rowbotham, Calvin G. Mole, Hans H. de Boer, Stephen M. Cordner, Soren Blau
A fatal one-punch assault is defined as a single punch to a person’s head or neck resulting in death. In some of these assaults, it may be important to understand which injuries stemmed from the pu...
{"title":"Differentiating fatal one-punch assaults from standing height falls based on skeletal trauma: a pilot study","authors":"Samantha K. Rowbotham, Calvin G. Mole, Hans H. de Boer, Stephen M. Cordner, Soren Blau","doi":"10.1080/00450618.2023.2292126","DOIUrl":"https://doi.org/10.1080/00450618.2023.2292126","url":null,"abstract":"A fatal one-punch assault is defined as a single punch to a person’s head or neck resulting in death. In some of these assaults, it may be important to understand which injuries stemmed from the pu...","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"68 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2023-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138565724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-04DOI: 10.1080/00450618.2023.2283414
Zeena Gadsby, Jeremy Martin, Melissa Thompson, Benjamin Ondruschka, Ugo Da Broi, Rexson Tse
Peer reviewing post-mortem reports, photographs and histology is a mandatory process in the everyday practice of forensic pathology. In the context of organ measurement/dimensions, comparing the di...
{"title":"Cardiac dimensions measured from post-mortem photographs: are they accurate?","authors":"Zeena Gadsby, Jeremy Martin, Melissa Thompson, Benjamin Ondruschka, Ugo Da Broi, Rexson Tse","doi":"10.1080/00450618.2023.2283414","DOIUrl":"https://doi.org/10.1080/00450618.2023.2283414","url":null,"abstract":"Peer reviewing post-mortem reports, photographs and histology is a mandatory process in the everyday practice of forensic pathology. In the context of organ measurement/dimensions, comparing the di...","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"28 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138542022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-29DOI: 10.1080/00450618.2023.2289376
Yu-Chi Lee, Fan Li
Estimating the sex from unknown bodies or fragmented human remains is essential for forensic identification. For sex estimation from foot features, previous studies highly depend on the foot length...
{"title":"Multidimensional foot measurements-based sex estimation for Taiwanese population in foot length overlapping interval","authors":"Yu-Chi Lee, Fan Li","doi":"10.1080/00450618.2023.2289376","DOIUrl":"https://doi.org/10.1080/00450618.2023.2289376","url":null,"abstract":"Estimating the sex from unknown bodies or fragmented human remains is essential for forensic identification. For sex estimation from foot features, previous studies highly depend on the foot length...","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"21 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138542007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-15DOI: 10.1080/00450618.2023.2270575
S. Bharathiraja, B. Rajesh Kanna, S. Geetha, G. Anusooya
In today's digital landscape, digital images are widely used for communication across various platforms, but they are also vulnerable to tampering and deception. The proliferation of image editing ...
{"title":"Unmasking the digital deception - a comprehensive survey on image forgery and detection techniques","authors":"S. Bharathiraja, B. Rajesh Kanna, S. Geetha, G. Anusooya","doi":"10.1080/00450618.2023.2270575","DOIUrl":"https://doi.org/10.1080/00450618.2023.2270575","url":null,"abstract":"In today's digital landscape, digital images are widely used for communication across various platforms, but they are also vulnerable to tampering and deception. The proliferation of image editing ...","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"102 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138533603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-14DOI: 10.1080/00450618.2023.2283418
Alexandre Giovanelli
ABSTRACTSeveral authors have suggested theoretical approaches that support the practices of forensic scientists, including adherence to the evidential paradigm and the centrality of the concept of trace, both included in the Sydney Declaration. The objective of this paper was to continue the construction of an integrated theoretical model, which incorporates the epistemological, methodological and practical dimensions of the forensic scientist’s work. Therefore, these new discussions found in the literature will be incorporated, as well as some established traditional concepts. A synthesis theory was elaborated from basic concepts and practices related to the following procedures performed by forensic scientists: a) use of laws derived from other sciences to assert causes associated with state changes observed in a trace; b) use of inferences and experimentation for the reconstruction of the criminal event and detection of trace arrangement patterns in criminal scenarios. The formulation of a coherent, hierarchical and systematic framework provides subsidies for facing some challenges in forensic science, such as: evaluating the role of cognitive bias in certain phases of the forensic scientist’s work; the determination of a coherent curriculum that aggregates the essential competences for forensic analysis and the improvement of the predictive potential of forensic science in intelligence studies.KEYWORDS: Forensic sciencetheory synthesisSydney Declarationepistemologylogical reasoningevidential paradigm Disclosure statementNo potential conflict of interest was reported by the author(s).Notes1. In fact, Alphonse Bertillon used this aphorism to support his analyzes of identification through photography. However, in his work ‘Anthropometric Identification’ (1893), Bertillon himself attributed these words to the famous anatomist Louis Peisse (1803–1880) inserted as an epigraph by Paul Richer (1849–1933) in his ‘Traité d’Anatomie Artistique’ (1890).2. The term is a way of recognizing the pioneering work of Frances Glessner Lee (1878–1962), an American scientist who dedicated herself to forensic science, promoting scientific meetings, discussions and research. His most famous accomplishment was the reconstitution of real crime scenes, through dioramas, known as ‘Nutshell Studies of Unexplained Death’.Additional informationFundingThis research did not receive any funding.
{"title":"The forensic´s scientist craft: toward an integrative theory. Part 2: meso- and macroapproach","authors":"Alexandre Giovanelli","doi":"10.1080/00450618.2023.2283418","DOIUrl":"https://doi.org/10.1080/00450618.2023.2283418","url":null,"abstract":"ABSTRACTSeveral authors have suggested theoretical approaches that support the practices of forensic scientists, including adherence to the evidential paradigm and the centrality of the concept of trace, both included in the Sydney Declaration. The objective of this paper was to continue the construction of an integrated theoretical model, which incorporates the epistemological, methodological and practical dimensions of the forensic scientist’s work. Therefore, these new discussions found in the literature will be incorporated, as well as some established traditional concepts. A synthesis theory was elaborated from basic concepts and practices related to the following procedures performed by forensic scientists: a) use of laws derived from other sciences to assert causes associated with state changes observed in a trace; b) use of inferences and experimentation for the reconstruction of the criminal event and detection of trace arrangement patterns in criminal scenarios. The formulation of a coherent, hierarchical and systematic framework provides subsidies for facing some challenges in forensic science, such as: evaluating the role of cognitive bias in certain phases of the forensic scientist’s work; the determination of a coherent curriculum that aggregates the essential competences for forensic analysis and the improvement of the predictive potential of forensic science in intelligence studies.KEYWORDS: Forensic sciencetheory synthesisSydney Declarationepistemologylogical reasoningevidential paradigm Disclosure statementNo potential conflict of interest was reported by the author(s).Notes1. In fact, Alphonse Bertillon used this aphorism to support his analyzes of identification through photography. However, in his work ‘Anthropometric Identification’ (1893), Bertillon himself attributed these words to the famous anatomist Louis Peisse (1803–1880) inserted as an epigraph by Paul Richer (1849–1933) in his ‘Traité d’Anatomie Artistique’ (1890).2. The term is a way of recognizing the pioneering work of Frances Glessner Lee (1878–1962), an American scientist who dedicated herself to forensic science, promoting scientific meetings, discussions and research. His most famous accomplishment was the reconstitution of real crime scenes, through dioramas, known as ‘Nutshell Studies of Unexplained Death’.Additional informationFundingThis research did not receive any funding.","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"46 9","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134991904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-31DOI: 10.1080/00450618.2023.2273014
Daniel Franklin
{"title":"‘From the editor’s desk’: closing out volume 55","authors":"Daniel Franklin","doi":"10.1080/00450618.2023.2273014","DOIUrl":"https://doi.org/10.1080/00450618.2023.2273014","url":null,"abstract":"","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"187 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135863906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-25DOI: 10.1080/00450618.2023.2270648
Luiza Báo Sobreira, Eugénia Cunha, Francisco Curate
ABSTRACTEstimating the biological sex is one of the key objectives in a forensic investigation involving unidentified human skeletal remains. The femur is sexually dimorphic and has been extensively employed for the assessment of sex in different populations. The purposes of this article include a detailed macroanatomical characterization of the femur in a modern reference sample of the Spanish population (N = 226; Cemetery of San José in Granada, housed in the Physical Anthropology Laboratory of the University of Granada), based on 15 measurements of the proximal, distal and diaphyseal regions, and the development of univariable and multivariable models that enable the prediction of sex from complete or fragmentary femora. Univariable models were developed with C4.5, a decision-tree algorithm. Furthermore, univariable and multivariable models were generated through logistic regression (LR) with stepwise selection procedures. The models were able to correctly estimate sex in up to 91.2% of the individuals, providing high classification accuracy and low bias under cross-validation. Logistic regression models provide a probabilistic estimate of sex, that acknowledges both the Daubert standard and the fact that biological sex is not strictly dichotomous.KEYWORDS: Femurlogistic regressiondecision trees, biological profileforensic anthropology AcknowledgmentsThe authors would like to thank the Department of Anthropology at the University of Granada, Spain, particularly to Professor Inmaculada Alemán, for the opportunity to collect data in its laboratory, and the Program Erasmus for granting an internship scholarship to the first author.Disclosure statementNo potential conflict of interest was reported by the author(s).Additional informationFundingThe work was supported by the Erasmus+.
{"title":"Biological sex estimation with femoral dimensions: a study of an adult sample from the osteological collection of Granada (Spain)","authors":"Luiza Báo Sobreira, Eugénia Cunha, Francisco Curate","doi":"10.1080/00450618.2023.2270648","DOIUrl":"https://doi.org/10.1080/00450618.2023.2270648","url":null,"abstract":"ABSTRACTEstimating the biological sex is one of the key objectives in a forensic investigation involving unidentified human skeletal remains. The femur is sexually dimorphic and has been extensively employed for the assessment of sex in different populations. The purposes of this article include a detailed macroanatomical characterization of the femur in a modern reference sample of the Spanish population (N = 226; Cemetery of San José in Granada, housed in the Physical Anthropology Laboratory of the University of Granada), based on 15 measurements of the proximal, distal and diaphyseal regions, and the development of univariable and multivariable models that enable the prediction of sex from complete or fragmentary femora. Univariable models were developed with C4.5, a decision-tree algorithm. Furthermore, univariable and multivariable models were generated through logistic regression (LR) with stepwise selection procedures. The models were able to correctly estimate sex in up to 91.2% of the individuals, providing high classification accuracy and low bias under cross-validation. Logistic regression models provide a probabilistic estimate of sex, that acknowledges both the Daubert standard and the fact that biological sex is not strictly dichotomous.KEYWORDS: Femurlogistic regressiondecision trees, biological profileforensic anthropology AcknowledgmentsThe authors would like to thank the Department of Anthropology at the University of Granada, Spain, particularly to Professor Inmaculada Alemán, for the opportunity to collect data in its laboratory, and the Program Erasmus for granting an internship scholarship to the first author.Disclosure statementNo potential conflict of interest was reported by the author(s).Additional informationFundingThe work was supported by the Erasmus+.","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135113063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ABSTRACTResearch on suicide has always been an area of particular interest in the forensic field. Over time, classifications have been proposed to define different types of suicide. A category is represented by complex suicides (CS) defined using two or more suicide methods simultaneously or consecutively. Considering the victim’s intentions, CS can be distinguished into planned, in which the victim plans the methods to ensure the fatal outcome, and unplanned, in which the methods are implemented in the mid-course because the first proves too painful or prolonged. The sometimes-varied dynamics with which such suicides are carried out can pose a diagnostic challenge for forensic pathologists and investigators. This paper aims to report the case history of complex suicides analysed during a year at the University of Rome ‘Tor Vergata’. For each case, the data from the on-site investigation (presence of suicide note and anamnestic information from the medical records of the deceased or family members’ reports) and autopsy investigations were analysed and discussed, with particular reference to the suicide methods used. For each case, a classification into planned and unplanned was proposed based on an integrated analytical approach.KEYWORDS: Forensic scienceslegal medicineplanned complex suicidesunplanned complex suicidecase series Disclosure statementNo potential conflict of interest was reported by the author(s).
{"title":"Forensic analysis of planned and unplanned complex suicides: a case series","authors":"Margherita Pallocci, Michele Treglia, Pierluigi Passalacqua, Fabio Guidato, Filippo Milano, Giulio Sacchetti, Luigi Tonino Marsella","doi":"10.1080/00450618.2023.2268129","DOIUrl":"https://doi.org/10.1080/00450618.2023.2268129","url":null,"abstract":"ABSTRACTResearch on suicide has always been an area of particular interest in the forensic field. Over time, classifications have been proposed to define different types of suicide. A category is represented by complex suicides (CS) defined using two or more suicide methods simultaneously or consecutively. Considering the victim’s intentions, CS can be distinguished into planned, in which the victim plans the methods to ensure the fatal outcome, and unplanned, in which the methods are implemented in the mid-course because the first proves too painful or prolonged. The sometimes-varied dynamics with which such suicides are carried out can pose a diagnostic challenge for forensic pathologists and investigators. This paper aims to report the case history of complex suicides analysed during a year at the University of Rome ‘Tor Vergata’. For each case, the data from the on-site investigation (presence of suicide note and anamnestic information from the medical records of the deceased or family members’ reports) and autopsy investigations were analysed and discussed, with particular reference to the suicide methods used. For each case, a classification into planned and unplanned was proposed based on an integrated analytical approach.KEYWORDS: Forensic scienceslegal medicineplanned complex suicidesunplanned complex suicidecase series Disclosure statementNo potential conflict of interest was reported by the author(s).","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135823799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ABSTRACTDroplet digital polymerase-chain reaction (ddPCR) and massively parallel sequencing (MPS) can be used to detect an extremely low proportion of non-overlapping single nucleotide polymorphisms (SNPs) of a minor contributor in a DNA mixture. Both semi-continuous and continuous probabilistic likelihood ratio (LR) models can be used to interpret the DNA profiles of mixtures. We analysed 28 identity-informative SNPs in 20 DNA mixtures with various minor to major ratios (1:29, to 1:99) by using our customized ddPCR panel and two MPS panels. The minor contributors of the DNA mixtures were correctly inferred using both semi-continuous and continuous LR models of EuroForMix based on the data of our customized ddPCR and one MPS panel. The accuracy rate of minor contributor assignment was 95% and 90% using semi-continuous and continuous LR models, respectively, using the data of the other MPS panel with lower coverage reads. In conclusion, the quantitative genotype data of SNPs generated using ddPCR can be used for the minor contributor inference for DNA mixtures. The performance of a continuous LR model in minor contributor identification in DNA mixtures may not be superior to that of a semi-continuous LR model when the coverage reads of the MPS panel is insufficient.KEYWORDS: Droplet digital PCRmassively parallel sequencingcontinuous likelihood ratiosemi-continuous likelihood ratiosingle nucleotide polymorphism AcknowledgmentsThe authors acknowledge the technical support of Professor Tsang-Ming Ko and Genefile Bioscience Laboratory for ddPCR experiments. We thank Ai-Jiun Jung for data analysis and manuscript typewriting.Disclosure statementNo potential conflict of interest was reported by the authors.Supplemental dataSupplemental data for this article can be accessed online at https://doi.org/10.1080/00450618.2023.2261511Additional informationFundingThis work was supported by the National Taiwan University Hospital Taiwan, R.O.C. [Grant Number NTUH 106-003500].
摘要微滴数字聚合酶链反应(ddPCR)和大规模平行测序(MPS)可用于检测DNA混合物中一个次要成分的极低比例的非重叠单核苷酸多态性(snp)。半连续和连续概率似然比(LR)模型均可用于解释混合物的DNA谱。通过使用我们定制的ddPCR面板和两个MPS面板，我们分析了20个DNA混合物中28个具有身份信息的snp，这些DNA混合物具有不同的主要和次要比例(1:29，至1:99)。根据我们定制的ddPCR和一个MPS面板的数据，使用EuroForMix的半连续和连续LR模型正确推断DNA混合物的次要贡献者。使用半连续和连续LR模型，使用其他覆盖率较低的MPS面板的数据，次要贡献者分配的准确率分别为95%和90%。总之，使用ddPCR产生的snp的定量基因型数据可以用于DNA混合物的次要贡献推断。当MPS面板的覆盖读数不足时，连续LR模型在DNA混合物中次要贡献者识别中的性能可能不会优于半连续LR模型。关键词:微滴数字pcr大规模平行测序连续似然比半连续似然比单核苷酸多态性作者感谢高曾明教授和Genefile生物科学实验室对ddPCR实验的技术支持。我们感谢Ai-Jiun Jung的数据分析和稿件打字。披露声明作者未报告潜在的利益冲突。补充数据本文的补充数据可在线访问https://doi.org/10.1080/00450618.2023.2261511Additional . info .本研究得到台湾国立台湾大学医院的支持[批准号:NTUH 106-003500]。
{"title":"DNA mixture analyses of autosomal single nucleotide polymorphisms for individual identification using droplet digital polymerase-chain reaction and massively parallel sequencing in combination with EuroFormix","authors":"Hsiao-Lin Hwa, Ming-Yih Wu, Pi-Mei Hsu, Hsiang-I Yin, Tsui-Ting Lee, Chih-Wen Su","doi":"10.1080/00450618.2023.2261511","DOIUrl":"https://doi.org/10.1080/00450618.2023.2261511","url":null,"abstract":"ABSTRACTDroplet digital polymerase-chain reaction (ddPCR) and massively parallel sequencing (MPS) can be used to detect an extremely low proportion of non-overlapping single nucleotide polymorphisms (SNPs) of a minor contributor in a DNA mixture. Both semi-continuous and continuous probabilistic likelihood ratio (LR) models can be used to interpret the DNA profiles of mixtures. We analysed 28 identity-informative SNPs in 20 DNA mixtures with various minor to major ratios (1:29, to 1:99) by using our customized ddPCR panel and two MPS panels. The minor contributors of the DNA mixtures were correctly inferred using both semi-continuous and continuous LR models of EuroForMix based on the data of our customized ddPCR and one MPS panel. The accuracy rate of minor contributor assignment was 95% and 90% using semi-continuous and continuous LR models, respectively, using the data of the other MPS panel with lower coverage reads. In conclusion, the quantitative genotype data of SNPs generated using ddPCR can be used for the minor contributor inference for DNA mixtures. The performance of a continuous LR model in minor contributor identification in DNA mixtures may not be superior to that of a semi-continuous LR model when the coverage reads of the MPS panel is insufficient.KEYWORDS: Droplet digital PCRmassively parallel sequencingcontinuous likelihood ratiosemi-continuous likelihood ratiosingle nucleotide polymorphism AcknowledgmentsThe authors acknowledge the technical support of Professor Tsang-Ming Ko and Genefile Bioscience Laboratory for ddPCR experiments. We thank Ai-Jiun Jung for data analysis and manuscript typewriting.Disclosure statementNo potential conflict of interest was reported by the authors.Supplemental dataSupplemental data for this article can be accessed online at https://doi.org/10.1080/00450618.2023.2261511Additional informationFundingThis work was supported by the National Taiwan University Hospital Taiwan, R.O.C. [Grant Number NTUH 106-003500].","PeriodicalId":8613,"journal":{"name":"Australian Journal of Forensic Sciences","volume":"107 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135759485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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