Pub Date : 2025-08-23DOI: 10.1016/j.scijus.2025.101314
Hannes Spichiger
Courts throughout several jurisdictions have dismissed cases on the basis that the link between a device or account and the accused person had not sufficiently been established. This core challenge of digital forensic science is named here the “Person-Device Gap” or the “Person-Account Gap” respectively. The gap illustrates the challenge of linking a person to a specific account or device, either in general or at the moment of interest. This article aims to explain this problem through modelling relevant identities and explains traces that have the potential to bridge the gap.
{"title":"Please mind the gap: A taxonomy for addressing the issue of linking person, account and device","authors":"Hannes Spichiger","doi":"10.1016/j.scijus.2025.101314","DOIUrl":"10.1016/j.scijus.2025.101314","url":null,"abstract":"<div><div>Courts throughout several jurisdictions have dismissed cases on the basis that the link between a device or account and the accused person had not sufficiently been established. This core challenge of digital forensic science is named here the “Person-Device Gap” or the “Person-Account Gap” respectively. The gap illustrates the challenge of linking a person to a specific account or device, either in general or at the moment of interest. This article aims to explain this problem through modelling relevant identities and explains traces that have the potential to bridge the gap.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101314"},"PeriodicalIF":2.0,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144903989","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 : 2025-08-22DOI: 10.1016/j.scijus.2025.101315
Yeji Kim , Yosuke Usumoto , Jin-Haeng Heo , Nozomi Eto , Yukiko Sadamatsu , Wonseok Yang , Eun-Ju Kang , Junji Morishita , Jeong-hwa Kwon , Seon Jung Jang , Sookyoung Lee , Yongsu Yoon
The identification of deceased individuals is essential in forensic investigations, particularly when primary identification methods such as odontology, fingerprint, or DNA analysis are unavailable. In such cases, implanted medical devices may serve as supplementary identifiers for positive identification. This study proposes deep learning-based methods for the automatic detection of metallic implants in scout images acquired from computed tomography (CT). Using a multi-institutional and multi-vendor dataset, two object detection models, RetinaNet and Faster R-CNN, were trained and evaluated to ensure generalizability across diverse imaging conditions. The proposed models achieved improved performance in detecting various types of implants, significantly reducing false positives and improving classification consistency. These findings emphasize the potential of CT scout image analysis as a practical tool for supporting forensic identification through the efficient detection of implanted medical devices.
{"title":"Application of deep learning for detecting implants in computed tomography scout images with multi-institution and multi-vendor for personal identification","authors":"Yeji Kim , Yosuke Usumoto , Jin-Haeng Heo , Nozomi Eto , Yukiko Sadamatsu , Wonseok Yang , Eun-Ju Kang , Junji Morishita , Jeong-hwa Kwon , Seon Jung Jang , Sookyoung Lee , Yongsu Yoon","doi":"10.1016/j.scijus.2025.101315","DOIUrl":"10.1016/j.scijus.2025.101315","url":null,"abstract":"<div><div>The identification of deceased individuals is essential in forensic investigations, particularly when primary identification methods such as odontology, fingerprint, or DNA analysis are unavailable. In such cases, implanted medical devices may serve as supplementary identifiers for positive identification. This study proposes deep learning-based methods for the automatic detection of metallic implants in scout images acquired from computed tomography (CT). Using a multi-institutional and multi-vendor dataset, two object detection models, RetinaNet and Faster R-CNN, were trained and evaluated to ensure generalizability across diverse imaging conditions. The proposed models achieved improved performance in detecting various types of implants, significantly reducing false positives and improving classification consistency. These findings emphasize the potential of CT scout image analysis as a practical tool for supporting forensic identification through the efficient detection of implanted medical devices.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101315"},"PeriodicalIF":2.0,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144902269","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 : 2025-08-12DOI: 10.1016/j.scijus.2025.101313
Sin Tong Ho, Hilary J. Hamnett
Bringing in diverse people to a scientific workplace can result in many different benefits including improved innovation and impact. This study investigates the current ethnic diversity in forensic science in the UK using an online questionnaire. The preliminary data collected were compared to census figures for scientific occupations, and it was found that minoritised individuals are under-represented. The survey also looked at whether forensic science workplaces have appropriate diversity training and employee support groups in place. In addition, 30 % of respondents disclosed that they have experienced discrimination in the workplace. We also examined the ethnicities of the top 100 most-cited forensic science researchers in the UK according to Scopus. This study is an important first step in tackling the ethnicity gaps present in forensic science. Further research is suggested on the specific barriers faced by minoritised individuals wishing to study, work, or progress within forensic science as well as intersectionality with other protected characteristics.
{"title":"A preliminary survey of ethnic diversity and experience of discrimination in forensic science in the UK","authors":"Sin Tong Ho, Hilary J. Hamnett","doi":"10.1016/j.scijus.2025.101313","DOIUrl":"10.1016/j.scijus.2025.101313","url":null,"abstract":"<div><div>Bringing in diverse people to a scientific workplace can result in many different benefits including improved innovation and impact. This study investigates the current ethnic diversity in forensic science in the UK using an online questionnaire. The preliminary data collected were compared to census figures for scientific occupations, and it was found that minoritised individuals are under-represented. The survey also looked at whether forensic science workplaces have appropriate diversity training and employee support groups in place. In addition, 30 % of respondents disclosed that they have experienced discrimination in the workplace. We also examined the ethnicities of the top 100 most-cited forensic science researchers in the UK according to Scopus. This study is an important first step in tackling the ethnicity gaps present in forensic science. Further research is suggested on the specific barriers faced by minoritised individuals wishing to study, work, or progress within forensic science as well as intersectionality with other protected characteristics.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101313"},"PeriodicalIF":2.0,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144858192","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 : 2025-08-06DOI: 10.1016/j.scijus.2025.101312
Heidi Monkman , Roland A.H. van Oorschot , Mariya Goray
DNA transfer events have been well researched in the context of commonly found items at crime scenes. However, whilst animals are a common feature of most households, transfer events involving companion animals have been understudied. Recent research has shown that dogs and cats are a reservoir of human DNA that can transfer to a hand or sterile object after a short contact. It is now of interest to explore how and where this DNA on dogs can transfer during normal human-animal interactions. In order to assess this aspect of DNA transfer, 5 dogs were paired with 5 visitors that were unknown to one another. The dogs were contacted by the visitor for 5 min and the first 5 items contacted immediately were sampled. Additionally, the first 3 items the visitor touched on return home, a number of pre-determined items they were instructed to touch, and both hands, were also targeted. Finally, the dog and the items that the animal contacted in an hour post contact were also analysed.
The results showed that DNA of the visitor or visitor’s housemate persisted on the dog up to an hour later in 50 % of the samples but was not detected on any of the items an animal contacted. Dog owner’s DNA transferred from the dog to the visitor and visitor related items and surfaces, including the car and the house, in 31 % of the samples. These results provide a valuable insight for forensic investigators on the potential origins of DNA found at a crime scene and also add to the body of research indicating that companion animals may be used as evidence to identify who had been in contact with a dog.
{"title":"Paws for a moment: Investigation of bi-directional transfer of human DNA during a short human–dog interaction and subsequent indirect transfers","authors":"Heidi Monkman , Roland A.H. van Oorschot , Mariya Goray","doi":"10.1016/j.scijus.2025.101312","DOIUrl":"10.1016/j.scijus.2025.101312","url":null,"abstract":"<div><div>DNA transfer events have been well researched in the context of commonly found items at crime scenes. However, whilst animals are a common feature of most households, transfer events involving companion animals have been understudied. Recent research has shown that dogs and cats are a reservoir of human DNA that can transfer to a hand or sterile object after a short contact. It is now of interest to explore how and where this DNA on dogs can transfer during normal human-animal interactions. In order to assess this aspect of DNA transfer, 5 dogs were paired with 5 visitors that were unknown to one another. The dogs were contacted by the visitor for 5 min and the first 5 items contacted immediately were sampled. Additionally, the first 3 items the visitor touched on return home, a number of pre-determined items they were instructed to touch, and both hands, were also targeted. Finally, the dog and the items that the animal contacted in an hour post contact were also analysed.</div><div>The results showed that DNA of the visitor or visitor’s housemate persisted on the dog up to an hour later in 50 % of the samples but was not detected on any of the items an animal contacted. Dog owner’s DNA transferred from the dog to the visitor and visitor related items and surfaces, including the car and the house, in 31 % of the samples. These results provide a valuable insight for forensic investigators on the potential origins of DNA found at a crime scene and also add to the body of research indicating that companion animals may be used as evidence to identify who had been in contact with a dog.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101312"},"PeriodicalIF":2.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830191","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 : 2025-07-31DOI: 10.1016/j.scijus.2025.101310
Lauren Woodcock , Thomas Mancini , Julia Ringe , Nunzianda Frascione
Wildlife poaching and the trade of wildlife items is a large area of illegal business that is alleged to be worth hundreds of billions of dollars. However, wildlife forensics remains an understudied field even though the consequences of poaching are catastrophic and can lead to the spread of zoonotic disease and a decrease in biodiversity. Even though fingermark analysis is cost-effective, easy to deploy in the field and has a long history of securing criminal convictions in court, wildlife forensics is mainly limited to DNA-based techniques. Rhinos are one of the most trafficked animals in the world, with some species being hunted to near extinction.
To reduce rhino poaching and tackle the trade of rhino horn, this research used various fingerprint powders, including standard and fluorescent powders, to visualise fingermarks deposited on rhino horn. Eight fingermark powders were tested, including four traditional powders (i.e., magneta-flake, aluminium, and reduced scale black and white powders) and four fluorescent powders (i.e., red-and-green-fluorescent powders, along with Foster + Freeman’s fpNatural® 1, and fpNatural® 2,). The rhino horn sample used in this study was cut in half, and latent fingermarks were enhanced on both the rough and smooth sides of the rhino horn. Lifting tape and black gelatine were employed to lift enhanced fingermarks, and fingermarks were photographed on Foster + Freeman’s DCS®4 (for standard powders) and DCS®5 (for fluorescent powders).
Black gelatine was found to be significantly superior to tape in preliminary trials, and therefore, only black gelatine was used to lift powdered fingermarks after initial experiments. This study highlights that metallic powders (namely aluminium and magneta flake), and all fluorescent powders are effective options to enhance latent fingermarks on rhino horn, yielding marks suitable for comparison and search on fingermark databases. These fingermarks can be lifted using black gelatine without significant loss of fingermark detail. Due to the rough nature of the surface, fingermarks were significantly inferior in quality on the rough outer surface than the smooth inner cut section of the rhino horn. The recommendations made in this study can have an impact on the illegal wildlife trade when deployed in the field, providing more tools to assist front line anti-poaching agents and leading to an increase in convictions.
{"title":"Using fingermark powders and lifters on rhino horn to support anti-poaching efforts","authors":"Lauren Woodcock , Thomas Mancini , Julia Ringe , Nunzianda Frascione","doi":"10.1016/j.scijus.2025.101310","DOIUrl":"10.1016/j.scijus.2025.101310","url":null,"abstract":"<div><div>Wildlife poaching and the trade of wildlife items is a large area of illegal business that is alleged to be worth hundreds of billions of dollars. However, wildlife forensics remains an understudied field even though the consequences of poaching are catastrophic and can lead to the spread of zoonotic disease and a decrease in biodiversity. Even though fingermark analysis is cost-effective, easy to deploy in the field and has a long history of securing criminal convictions in court, wildlife forensics is mainly limited to DNA-based techniques. Rhinos are one of the most trafficked animals in the world, with some species being hunted to near extinction.</div><div>To reduce rhino poaching and tackle the trade of rhino horn, this research used various fingerprint powders, including standard and fluorescent powders, to visualise fingermarks deposited on rhino horn. Eight fingermark powders were tested, including four traditional powders (i.e., magneta-flake, aluminium, and reduced scale black and white powders) and four fluorescent powders (i.e., red-and-green-fluorescent powders, along with Foster + Freeman’s fpNatural® 1, and fpNatural® 2,). The rhino horn sample used in this study was cut in half, and latent fingermarks were enhanced on both the rough and smooth sides of the rhino horn. Lifting tape and black gelatine were employed to lift enhanced fingermarks, and fingermarks were photographed on Foster + Freeman’s DCS®4 (for standard powders) and DCS®5 (for fluorescent powders).</div><div>Black gelatine was found to be significantly superior to tape in preliminary trials, and therefore, only black gelatine was used to lift powdered fingermarks after initial experiments. This study highlights that metallic powders (namely aluminium and magneta flake), and all fluorescent powders are effective options to enhance latent fingermarks on rhino horn, yielding marks suitable for comparison and search on fingermark databases. These fingermarks can be lifted using black gelatine without significant loss of fingermark detail. Due to the rough nature of the surface, fingermarks were significantly inferior in quality on the rough outer surface than the smooth inner cut section of the rhino horn. The recommendations made in this study can have an impact on the illegal wildlife trade when deployed in the field, providing more tools to assist front line anti-poaching agents and leading to an increase in convictions.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101310"},"PeriodicalIF":2.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144867237","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 : 2025-07-16DOI: 10.1016/j.scijus.2025.101309
Jill Snyder, Hannah Varner, Jamie Fredericks
Traditionally, when processing DNA samples, a multiple-step procedure is followed; after a sample has been collected, DNA is then extracted and quantified before a profile is generated. During the process, valuable DNA can be lost and/or consumed. When processing reference samples, where DNA is usually in abundance, DNA loss may not be a concern for the analysts. However, DNA loss from samples that have minimal amounts of DNA could be detrimental to successful analysis. Touch or contact DNA samples are collected when an individual has handled an object, leaving behind genetic material. Genetic and environmental factors can affect the amount of touch DNA deposited; thus, it is important that as much DNA is retrieved from the surface being sampled and made available for analysis. A new collection method, using Promega’s SwabSolution™ as a swab wetting agent, is proposed. In comparison to traditional methods, the new procedure significantly increased both the amount of amplifiable DNA retrieved and the number of alleles amplified and maintained with acceptable peak height ratios of heterozygote loci. The proposed method coupled with direct PCR protocols has shown to be a reliable and effective procedure for the analysis of touch DNA samples across a variety of different surfaces.
{"title":"A simple protocol to improve touch DNA analysis using direct STR amplification","authors":"Jill Snyder, Hannah Varner, Jamie Fredericks","doi":"10.1016/j.scijus.2025.101309","DOIUrl":"10.1016/j.scijus.2025.101309","url":null,"abstract":"<div><div>Traditionally, when processing DNA samples, a multiple-step procedure is followed; after a sample has been collected, DNA is then extracted and quantified before a profile is generated. During the process, valuable DNA can be lost and/or consumed. When processing reference samples, where DNA is usually in abundance, DNA loss may not be a concern for the analysts. However, DNA loss from samples that have minimal amounts of DNA could be detrimental to successful analysis. Touch or contact DNA samples are collected when an individual has handled an object, leaving behind genetic material. Genetic and environmental factors can affect the amount of touch DNA deposited; thus, it is important that as much DNA is retrieved from the surface being sampled and made available for analysis. A new collection method, using Promega’s SwabSolution™ as a swab wetting agent, is proposed. In comparison to traditional methods, the new procedure significantly increased both the amount of amplifiable DNA retrieved and the number of alleles amplified and maintained with acceptable peak height ratios of heterozygote loci. The proposed method coupled with direct PCR protocols has shown to be a reliable and effective procedure for the analysis of touch DNA samples across a variety of different surfaces.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101309"},"PeriodicalIF":1.9,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144662066","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 : 2025-07-09DOI: 10.1016/j.scijus.2025.101307
R.J. Accioly , E.G. Silva , K.C. Mariotti , C. Fridman
Human identification and its involved science are present in the daily context of legal medicine, criminal justice, and humanitarian issues. The development of a mirror delamination method for fingermark enhancement on silver mirror substrates has resulted in an affordable and efficient alternative to obtain good-quality fingermark images for forensic investigations. However, efficiency and sensitivity comparisons between the novel method and established techniques are necessary to understand the limiting factors and practical applications. This study used a fingermark depletion series for comparative analysis of chemical delamination processes and 1) powder, followed by lift process; 2) superglue, followed by powder and lift process; and 3) polarized light techniques. The results demonstrated that the mirror delamination method detected more minutiae than powder and superglue treatments, increasing 227% and 23%, respectively. Polarized light system illumination detected 6% more minutiae than chemical delamination. The evaluation of the magnitude of these differences revealed that the silver mirror chemical delamination method could be an effective and noncontact alternative for the fingermark enhancement procedures.
{"title":"Fingermark development on silver mirror surfaces: A comparative study between mirror chemical delamination assessment and established techniques","authors":"R.J. Accioly , E.G. Silva , K.C. Mariotti , C. Fridman","doi":"10.1016/j.scijus.2025.101307","DOIUrl":"10.1016/j.scijus.2025.101307","url":null,"abstract":"<div><div>Human identification and its involved science are present in the daily context of legal medicine, criminal justice, and humanitarian issues. The development of a mirror delamination method for fingermark enhancement on silver mirror substrates has resulted in an affordable and efficient alternative to obtain good-quality fingermark images for forensic investigations. However, efficiency and sensitivity comparisons between the novel method and established techniques are necessary to understand the limiting factors and practical applications. This study used a fingermark depletion series for comparative analysis of chemical delamination processes and 1) powder, followed by lift process; 2) superglue, followed by powder and lift process; and 3) polarized light techniques. The results demonstrated that the mirror delamination method detected more minutiae than powder and superglue treatments, increasing 227% and 23%, respectively. Polarized light system illumination detected 6% more minutiae than chemical delamination. The evaluation of the magnitude of these differences revealed that the silver mirror chemical delamination method could be an effective and noncontact alternative for the fingermark enhancement procedures.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101307"},"PeriodicalIF":1.9,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144605224","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 : 2025-07-07DOI: 10.1016/j.scijus.2025.101308
David A. Keatley
Police investigations often give rise to multiple hypothetical pathways for how the crime was conducted. Investigators may develop several hypotheses, often based on different pieces of evidence. It is often the case that investigators have too many potential hypotheses rather than too few. The current research shows a method of prioritizing hypotheses based on all evidence available and how this may help highlight and reduce bias in investigations. A real-world case of a homicide, that was originally misclassified as a death by natural causes is provided to show how Analysis of Competing Hypothesis (ACH) can be effectively used. Findings show support for the use of ACH in major crimes and cold case reviews. ACH allows investigators and reviewers to clearly show which hypotheses they have formulated and what evidence is consistent or inconsistent. In the case outlined, ACH may have led to consideration of poisoning rather than natural causes. This is the first paper to explore the use of ACH in major crimes and cold case reviews. While other authors have shown the importance of structuring decision making in police investigations, none have used the ACH framework.
{"title":"Prioritizing patterns in evidence: Applying the analysis of competing hypotheses framework to criminal investigations and cold cases","authors":"David A. Keatley","doi":"10.1016/j.scijus.2025.101308","DOIUrl":"10.1016/j.scijus.2025.101308","url":null,"abstract":"<div><div>Police investigations often give rise to multiple hypothetical pathways for how the crime was conducted. Investigators may develop several hypotheses, often based on different pieces of evidence. It is often the case that investigators have too many potential hypotheses rather than too few. The current research shows a method of prioritizing hypotheses based on all evidence available and how this may help highlight and reduce bias in investigations. A real-world case of a homicide, that was originally misclassified as a death by natural causes is provided to show how Analysis of Competing Hypothesis (ACH) can be effectively used. Findings show support for the use of ACH in major crimes and cold case reviews. ACH allows investigators and reviewers to clearly show which hypotheses they have formulated and what evidence is consistent or inconsistent. In the case outlined, ACH may have led to consideration of poisoning rather than natural causes. This is the first paper to explore the use of ACH in major crimes and cold case reviews. While other authors have shown the importance of structuring decision making in police investigations, none have used the ACH framework.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101308"},"PeriodicalIF":1.9,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144572147","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 : 2025-07-05DOI: 10.1016/j.scijus.2025.101305
R.I.B. Fonseca , G. Valle-Silva , C.T. Mendes-Junior , C. Fridman
Short Tandem Repeats (STRs) are the standard technique used in forensic genetics for individual identification due to their high polymorphism and robustness. Although Capillary Electrophoresis (CE) enables the analysis of many STRs, Next-Generation Sequencing (NGS) offers enhanced resolution and the ability to detect STRs’ isoalleles and their flanking regions, enhancing the discrimination power of this analysis. Despite the fact that STR kits for NGS are well standardized for evaluating forensic samples, there is no data on their effectiveness in differentiating monozygotic (MZ) twins, which are indistinguishable by CE. This study aimed to assess the efficacy of Thermo Fisher Scientific’s Precision ID GlobalFiler™ NGS STR Panel v2 in discriminating monozygotic twins by analyzing STRs and their flanking regions. Peripheral blood samples from thirty-two pairs of monozygotic twins were collected and CE and NGS profiles were compared. Then, NGS data were analyzed using Converge, IGV and STRait Razor software. The results showed agreement between the profiles generated by CE and NGS, with the exception of individual G037B, which presented a dropout in allele 13 of the Penta D marker in the Converge analysis. Using IGV, it was possible to note that this result was probably due to sequencing failure in different parts of the reads. On the other hand, STRait Razor was successful in detecting allele 13 in this individual, even with its low coverage (19 reads). Isoalleles were observed in 8 STRs markers, in both individuals of the 10-pair MZ, however, it was not possible to differentiate identical twins. Next, by analyzing the flanking region of the markers, the Converge software pointed out two SNPs in the regions adjacent to the STRs. For individual G016A, rs560609904 was detected in the TPOX marker and for individual G027B, the SNP rs569521603 in D6S1043. But after analysis by STRait Razor and Sanger sequencing to validate these results, these findings were not confirmed. The NGS error rate was analyzed, showing that the SNPs previously pointed out by Converge were in fact sequencing errors and not somatic mutations. In summary, in spite of not differentiating MZ twins, we concluded that the Precision ID GlobalFilerTM NGS STR Panel v2 kit is an effective tool at identifying isoalleles, which increases the discrimination power for forensic analysis. We also strongly recommend the use of more than one genotype calling software to analyze NGS data in order to confirm the results and to tell apart sequencing errors from actual genetic variability.
短串联重复序列（STRs）由于其高多态性和鲁棒性，是法医遗传学中用于个体鉴定的标准技术。虽然毛细管电泳（CE）可以分析许多STRs，但下一代测序（NGS）提供了更高的分辨率和检测STRs等等位基因及其侧翼区域的能力，增强了这种分析的辨别能力。尽管用于NGS的STR试剂盒已很好地标准化用于评估法医样本，但没有数据表明它们在区分单卵双胞胎（MZ）方面的有效性，因为CE无法区分。本研究旨在通过分析STR及其侧翼区域，评估赛默飞世尔公司的Precision ID GlobalFiler™NGS STR Panel v2在鉴别同卵双胞胎中的功效。收集32对同卵双胞胎外周血，比较CE和NGS谱。然后，使用Converge、IGV和STRait Razor软件对NGS数据进行分析。结果表明，除了G037B个体在Converge分析中出现了Penta D标记的13等位基因缺失外，CE和NGS生成的基因图谱基本一致。使用IGV，可以注意到这一结果可能是由于reads不同部分的测序失败。另一方面，海峡剃刀成功地检测了该个体的13号等位基因，即使它的覆盖率很低（19次读取）。在10对MZ的两个个体中，有8个STRs标记存在等等位基因，但无法区分同卵双胞胎。接下来，通过分析标记的侧翼区域，Converge软件在STRs附近的区域指出了两个snp。个体G016A在TPOX标记中检测到rs560609904，个体G027B在D6S1043中检测到rs569521603 SNP。但经过海峡剃刀和桑格测序分析来验证这些结果后，这些发现并未得到证实。分析了NGS错误率，结果表明，Converge先前指出的SNPs实际上是测序错误，而不是体细胞突变。总之，尽管不能区分MZ双胞胎，但我们得出结论，Precision ID GlobalFilerTM NGS STR Panel v2试剂盒是识别等等位基因的有效工具，这增加了法医分析的辨别能力。我们还强烈建议使用多个基因型调用软件来分析NGS数据，以确认结果并将测序错误与实际遗传变异性区分开来。
{"title":"Discriminatory power of the Precision ID GlobalFiler™ NGS STR panel v2 in monozygotic twins for forensic applications","authors":"R.I.B. Fonseca , G. Valle-Silva , C.T. Mendes-Junior , C. Fridman","doi":"10.1016/j.scijus.2025.101305","DOIUrl":"10.1016/j.scijus.2025.101305","url":null,"abstract":"<div><div>Short Tandem Repeats (STRs) are the standard technique used in forensic genetics for individual identification due to their high polymorphism and robustness. Although Capillary Electrophoresis (CE) enables the analysis of many STRs, Next-Generation Sequencing (NGS) offers enhanced resolution and the ability to detect STRs’ isoalleles and their flanking regions, enhancing the discrimination power of this analysis. Despite the fact that STR kits for NGS are well standardized for evaluating forensic samples, there is no data on their effectiveness in differentiating monozygotic (MZ) twins, which are indistinguishable by CE. This study aimed to assess the efficacy of Thermo Fisher Scientific’s Precision ID GlobalFiler™ NGS STR Panel v2 in discriminating monozygotic twins by analyzing STRs and their flanking regions. Peripheral blood samples from thirty-two pairs of monozygotic twins were collected and CE and NGS profiles were compared. Then, NGS data were analyzed using Converge, IGV and STRait Razor software. The results showed agreement between the profiles generated by CE and NGS, with the exception of individual G037B, which presented a dropout in allele 13 of the Penta D marker in the Converge analysis. Using IGV, it was possible to note that this result was probably due to sequencing failure in different parts of the reads. On the other hand, STRait Razor was successful in detecting allele 13 in this individual, even with its low coverage (19 reads). Isoalleles were observed in 8 STRs markers, in both individuals of the 10-pair MZ, however, it was not possible to differentiate identical twins. Next, by analyzing the flanking region of the markers, the Converge software pointed out two SNPs in the regions adjacent to the STRs. For individual G016A, rs560609904 was detected in the TPOX marker and for individual G027B, the SNP rs569521603 in D6S1043. But after analysis by STRait Razor and Sanger sequencing to validate these results, these findings were not confirmed. The NGS error rate was analyzed, showing that the SNPs previously pointed out by Converge were in fact sequencing errors and not somatic mutations. In summary, in spite of not differentiating MZ twins, we concluded that the Precision ID GlobalFiler<sup>TM</sup> NGS STR Panel v2 kit is an effective tool at identifying isoalleles, which increases the discrimination power for forensic analysis. We also strongly recommend the use of more than one genotype calling software to analyze NGS data in order to confirm the results and to tell apart sequencing errors from actual genetic variability.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101305"},"PeriodicalIF":1.9,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144572149","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 : 2025-06-30DOI: 10.1016/j.scijus.2025.101306
Maxime Bérubé , Laurie-Anne Beaulieu , Sophie Allard , Vincent Denault
Technology’s rapid evolution has made digital traces a common part of our lives, holding significant value for investigations and legal cases across various national jurisdictions. However, law enforcement and judicial systems often struggle to adapt to these changes, resulting in possible misinterpretations of digital evidence in criminal trials. Drawing on insights from a qualitative analysis of a terrorism-related court case, this research aims to gain a deeper understanding of the fundamental challenges of decision-making in digital forensics and how they can impact a criminal case. Our findings show that operational, technical, and management constraints hinder the accurate processing of digital traces. They highlight the need for standardized forensic practices and rigorous validation procedures to ensure clarity and reliability. A more structured approach can support law enforcement in adapting to the rapidly changing technological landscape and, subsequently, help legal teams to better comprehend the complexities of digital evidence. While recognizing that each investigation is unique, this highly detailed examination allowed us to identify ways to help practitioners improve their investigative practices and to foster a clearer understanding of digital evidence in the justice system.
{"title":"From digital trace to evidence: Challenges and insights from a trial case study","authors":"Maxime Bérubé , Laurie-Anne Beaulieu , Sophie Allard , Vincent Denault","doi":"10.1016/j.scijus.2025.101306","DOIUrl":"10.1016/j.scijus.2025.101306","url":null,"abstract":"<div><div>Technology’s rapid evolution has made digital traces a common part of our lives, holding significant value for investigations and legal cases across various national jurisdictions. However, law enforcement and judicial systems often struggle to adapt to these changes, resulting in possible misinterpretations of digital evidence in criminal trials. Drawing on insights from a qualitative analysis of a terrorism-related court case, this research aims to gain a deeper understanding of the fundamental challenges of decision-making in digital forensics and how they can impact a criminal case. Our findings show that operational, technical, and management constraints hinder the accurate processing of digital traces. They highlight the need for standardized forensic practices and rigorous validation procedures to ensure clarity and reliability. A more structured approach can support law enforcement in adapting to the rapidly changing technological landscape and, subsequently, help legal teams to better comprehend the complexities of digital evidence. While recognizing that each investigation is unique, this highly detailed examination allowed us to identify ways to help practitioners improve their investigative practices and to foster a clearer understanding of digital evidence in the justice system.</div></div>","PeriodicalId":49565,"journal":{"name":"Science & Justice","volume":"65 5","pages":"Article 101306"},"PeriodicalIF":1.9,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144557206","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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