Forensic Science International-Genetics最新文献

筛选
英文 中文
Where did it go? A study of DNA transfer in a social setting 它去了哪里?社会环境中的 DNA 转移研究。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-08-02 DOI: 10.1016/j.fsigen.2024.103101
Amy Cahill , Luke Volgin , Roland A.H. van Oorschot , Duncan Taylor , Mariya Goray
{"title":"Where did it go? A study of DNA transfer in a social setting","authors":"Amy Cahill ,&nbsp;Luke Volgin ,&nbsp;Roland A.H. van Oorschot ,&nbsp;Duncan Taylor ,&nbsp;Mariya Goray","doi":"10.1016/j.fsigen.2024.103101","DOIUrl":"10.1016/j.fsigen.2024.103101","url":null,"abstract":"<div><p>The sensitivity of DNA analysis has progressed to the point that trace levels of DNA, originating from only a few cells, can generate informative profiles. This means that virtually any item or surface can be sampled with a reasonable chance of obtaining a DNA profile. As the presence of DNA does not suggest how it was deposited, questions are often raised as to how the DNA came to be at a particular location and the activity that led to its deposition. Therefore, understanding different modes of DNA deposition, reflective of realistic forensic casework situations, is critical for proper evaluation of DNA results in court. This study aimed to follow the movements of DNA to and from individuals and common household surfaces in a residential premises, while socially interacting. This took place over an hour and involved four participants, with known shedder status, designated as visitors (a male and a female) and hosts (a male and a female), who engaged in the activity of playing a board game while being served food. During the study, the participants were instructed to use the toilet on a single occasion to assess the transfer of DNA to new and unused underwear that was provided. All contacts made by the participants in the dining room and kitchen were video recorded to follow the movements of DNA. Samples were collected based on the history of contact, which included hands, fingernails and penile swabs. Direct contacts resulted in detectable transfer (LR &gt; 1) in 87 % (87/100) of the non-intimate samples and clothing. For surfaces touched by multiple participants, DNA from the person who made the last contact was not always detectable. The duration and number of contacts did not significantly affect the detection of the person contacting the item. On the other hand, presence of background DNA and participant’s shedder status appear to play an important role. Further, unknown contributors were detected in the majority of samples. Finally, indirect transfer was observed on a number of occasions including co-habiting partners of guests who were not present at the study location. The results of this study may assist with decision making for exhibit selection or targeting areas for sampling within the home environment. Our findings can also be used in conjunction with previous literature to develop activity-level evaluations in such situations where the source of the DNA is conceded, but the mode of deposition is disputed.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103101"},"PeriodicalIF":3.2,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324000978/pdfft?md5=7e0d53e57a906b5a7bac9b85f518f1fe&pid=1-s2.0-S1872497324000978-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891363","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
Value of DNA mixture-to-mixture comparisons within an operational context 在实际操作中进行 DNA 混合物对混合物比较的价值。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-31 DOI: 10.1016/j.fsigen.2024.103110
Patrick Basset, Louanne Toulemont, Tacha Hicks, Vincent Castella
{"title":"Value of DNA mixture-to-mixture comparisons within an operational context","authors":"Patrick Basset,&nbsp;Louanne Toulemont,&nbsp;Tacha Hicks,&nbsp;Vincent Castella","doi":"10.1016/j.fsigen.2024.103110","DOIUrl":"10.1016/j.fsigen.2024.103110","url":null,"abstract":"<div><p>Since 1995, national forensic DNA databases have used a maximum number of contributors, and a minimum number of loci to reduce the risk of providing false leads. DNA profiles of biological traces that do not meet these criteria cannot be loaded into these databases. In 2023, about 10 % of more than 15,000 trace DNA profiles analyzed in western Switzerland were not compared at the national level, even though they were considered to be interpretable, mainly because they contained the DNA from more than two persons. In this situation, police services can request local comparisons with DNA profiles of known persons and/or with other traces, but this occurs in only a small proportion of cases, so that DNA mixtures are rarely used to help detect potential series. The development of probabilistic genotyping software and its associated tools have made possible the efficient performance of this type of comparison, which is based on likelihood ratios (LR) rather than on the number of shared alleles.</p><p>To highlight potential common contributors for investigation and intelligence purposes, the present study used the mixture-to-mixture tool of the software STRmix v2.7 to compare 235 DNA profiles that cannot be searched the Swiss DNA database. These DNA profiles originated from traces collected by six different police services in 2021 and 2022. Traces were selected by the police based on information that indicated that they were from potential series. Associations between profiles were compared with expected investigative associations to define the value of this approach. Among the 27,495 pairwise comparisons of DNA profiles, 88 pairs (0.3 %) showed at least one potential common contributor when using a LR threshold of 1000. Of these 88 pairs, 60 (68.2 %) were qualified by the police services as “expected” (60/88), 22 (25.0 %) as “possible”, and six (6.8 %) as “unexpected”. Although it is important to consider the limits of this approach (e.g., adventitious or missed associations, cost/benefit evaluation, integration of DNA mixture comparison in the process), these findings indicate that non CODIS loadable DNA mixtures could provide police agencies with information concerning potential series at both the local and national level.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103110"},"PeriodicalIF":3.2,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324001066/pdfft?md5=e6d1a6a807f3c6c3d3df823831118f59&pid=1-s2.0-S1872497324001066-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891362","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
Discordance of Penta D x.4 microvariant alleles results between three capillary electrophoresis and one massively parallel sequencing short tandem repeat kits 三种毛细管电泳和一种大规模平行测序短串联重复试剂盒的 Penta D x.4 微变异等位基因结果不一致。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-31 DOI: 10.1016/j.fsigen.2024.103112
Marie S. Rye, Colby M. Hymus
{"title":"Discordance of Penta D x.4 microvariant alleles results between three capillary electrophoresis and one massively parallel sequencing short tandem repeat kits","authors":"Marie S. Rye,&nbsp;Colby M. Hymus","doi":"10.1016/j.fsigen.2024.103112","DOIUrl":"10.1016/j.fsigen.2024.103112","url":null,"abstract":"<div><p>Forensic Biology is contingent upon matching DNA profiles between a crime sample and a reference sample. There are several capillary electrophoresis kits available to generate a short tandem repeat (STR) profile from DNA samples, while newer methods using massively parallel sequencing are slowly being implemented in forensic laboratories worldwide. During evaluation of a newer capillary electrophoresis kit, Applied Biosystems™ VeriFiler™ Plus, a discordance was observed in the Penta D locus. The previous kit, Promega PowerPlex 21® System produced a 13.4,14 genotype, whilst VeriFiler™ Plus produced a 14,14 genotype. An expanded investigation into Penta D microvariant alleles revealed that multiple discordances were observed for DNA profiles containing larger x.4 variants. There was full concordance between PowerPlex® 21 and QIAGEN Investigator® 26plex, however discordances were observed between VeriFiler™ Plus and the other three kits tested, including the massively parallel sequencing kit, Verogen ForenSeq® MainstAY. Notably, four of these discordances resulted in null alleles with the VeriFiler™ Plus kit. A review of the Penta D DNA sequences in MainstAY revealed fully concordant microvariant alleles involved deletions within the repeat region, whilst variability in the discordances observed were dependent on the location of the variation outside the repeat region and the analysis method used. Variations observed within the 5’ flanking region produced the same allele designation across all capillary electrophoresis kits. However, deletions within the 3’ region either produced a null allele for VeriFiler™ Plus where the deletion is thought to overlap the primer binding site, or microvariant alleles for the PowerPlex® 21 and Investigator 26plex kits, which produced longer Penta D amplicons. The discovery of these variations in the Penta D flanking sequences is informative as it increases the awareness of Penta D discordances between different kit chemistries in nominated reference DNA profile comparisons and DNA database searching and matching alike, and provides support for this phenomenon when providing evidence as to the admissibility of such results in trial proceedings.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103112"},"PeriodicalIF":3.2,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891361","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
A comparison of likelihood ratios calculated from surface DNA mixtures using MPS and CE Technologies 使用 MPS 和 CE 技术计算表面 DNA 混合物的似然比比较。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-31 DOI: 10.1016/j.fsigen.2024.103111
Maria Martin Agudo , Chiara Fantinato , Arne Roseth , Håvard Aanes , Peter Gill , Ane Elida Fonneløp , Øyvind Bleka
{"title":"A comparison of likelihood ratios calculated from surface DNA mixtures using MPS and CE Technologies","authors":"Maria Martin Agudo ,&nbsp;Chiara Fantinato ,&nbsp;Arne Roseth ,&nbsp;Håvard Aanes ,&nbsp;Peter Gill ,&nbsp;Ane Elida Fonneløp ,&nbsp;Øyvind Bleka","doi":"10.1016/j.fsigen.2024.103111","DOIUrl":"10.1016/j.fsigen.2024.103111","url":null,"abstract":"<div><p>This study evaluates the performance of analysing surface DNA samples using massively parallel sequencing (MPS) compared to traditional capillary electrophoresis (CE). A total of 30 samples were collected from various surfaces in an office environment and were analysed with CE and MPS. These were compared against 60 reference samples (office inhabitants). To identify contributors, likelihood ratios (LRs) were calculated for MPS and CE data using the probabilistic genotyping software MPSproto and EuroForMix respectively. Although a higher number of sequences/peaks were observed per DNA profile in MPS compared to CE, LR values were found to be lower for MPS data formats. This might be the result of the increased complexity of MPS data, along with a possible elevation of unknown alleles and/or artefacts. The study highlights avenues for improving MPS data quality and analysis to facilitate more robust interpretation of challenging casework-like samples.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103111"},"PeriodicalIF":3.2,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324001078/pdfft?md5=80d9cd182b5cd5878df2d2cedbfb6f8b&pid=1-s2.0-S1872497324001078-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141918356","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
‘Low’ LRs obtained from DNA mixtures: On calibration and discrimination performance of probabilistic genotyping software 从 DNA 混合物中获得的 "低 "LRs:关于概率基因分型软件的校准和分辨性能。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-27 DOI: 10.1016/j.fsigen.2024.103099
M. McCarthy-Allen , Ø. Bleka , R. Ypma , P. Gill , C. Benschop
{"title":"‘Low’ LRs obtained from DNA mixtures: On calibration and discrimination performance of probabilistic genotyping software","authors":"M. McCarthy-Allen ,&nbsp;Ø. Bleka ,&nbsp;R. Ypma ,&nbsp;P. Gill ,&nbsp;C. Benschop","doi":"10.1016/j.fsigen.2024.103099","DOIUrl":"10.1016/j.fsigen.2024.103099","url":null,"abstract":"<div><p>The validity of a probabilistic genotyping (PG) system is typically demonstrated by following international guidelines for the developmental and internal validation of PG software. These guidelines mainly focus on discriminatory power. Very few studies have reported with metrics that depend on calibration of likelihood ratio (LR) systems. In this study, discriminatory power as well as various calibration metrics, such as Empirical Cross-Entropy (ECE) plots, pool adjacent violator (PAV) plots, log likelihood ratio cost (Cllr and Cllr<sup><em>cal</em></sup>), fiducial calibration discrepancy plots, and Turing’ expectation were examined using the publicly-available PROVEDIt dataset. The aim was to gain deeper insight into the performance of a variety of PG software in the ‘lower’ LR ranges (∼LR 1–10,000), with focus on DNAStatistX and EuroForMix which use maximum likelihood estimation (MLE). This may be a driving force for the end users to reconsider current LR thresholds for reporting. In previous studies, overstated ‘low’ LRs were observed for these PG software. However, applying (arbitrarily) high LR thresholds for reporting wastes relevant evidential value. This study demonstrates, based on calibration performance, that previously reported LR thresholds can be lowered or even discarded. Considering LRs &gt;1, there was no evidence for miscalibration performance above LR ∼1000 when using Fst 0.01. Below this LR value, miscalibration was observed. Calibration performance generally improved with the use of Fst 0.03, but the extent of this was dependent on the dataset: results ranged from miscalibration up to LR ∼100 to no evidence of miscalibration alike PG software using different methods to model peak height, HMC and STRmix. This study demonstrates that practitioners using MLE-based models should be careful when low LR ranges are reported, though applying arbitrarily high LR thresholds is discouraged. This study also highlights various calibration metrics that are useful in understanding the performance of a PG system.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103099"},"PeriodicalIF":3.2,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876986","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
Development and validation of a novel forensic STR multiplex assay for blue (Anthropoides paradiseus), wattled (Bugeranus carunculatus), and grey-crowned crane (Balearica regulorum) 针对蓝鹤(Anthropoides paradiseus)、丹顶鹤(Bugeranus carunculatus)和灰冠鹤(Balearica regulorum)的新型法医 STR 多路分析法的开发与验证。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-25 DOI: 10.1016/j.fsigen.2024.103100
Marli de Bruyn , Desiré Lee Dalton , Monica Mwale , Karen Ehlers , Antoinette Kotze
{"title":"Development and validation of a novel forensic STR multiplex assay for blue (Anthropoides paradiseus), wattled (Bugeranus carunculatus), and grey-crowned crane (Balearica regulorum)","authors":"Marli de Bruyn ,&nbsp;Desiré Lee Dalton ,&nbsp;Monica Mwale ,&nbsp;Karen Ehlers ,&nbsp;Antoinette Kotze","doi":"10.1016/j.fsigen.2024.103100","DOIUrl":"10.1016/j.fsigen.2024.103100","url":null,"abstract":"<div><p>The blue crane (<em>Anthropoides paradiseus</em>), wattled crane (<em>Bugeranus carunculatus</em>), and grey-crowned crane (<em>Balearica regulorum</em>) are species of concern as their populations are declining and they face several threats including habitat loss, disturbance and illegal trade. In South Africa, these species are bred in captivity for trade purposes which is permitted and regulated globally under the Convention on International Trade in Endangered Species of Wild Fauna and Flora (CITES). Legal sustainable trade through captive breeding of endangered wildlife species such as cranes has been promoted to counteract the illegal trade of individuals from the wild. Captive breeding independent of wild populations may reduce the harvest pressures on wild bird populations which in turn benefit the recovery of exploited species. This approach is considered to be controversial by some individuals. Although captive breeding of endangered species, for both population sustainability and commercial purposes, is promoted to aid in conserving species, concerns have been raised with regards to breeding facilities being used for laundering of animals. To monitor the legal trade of cranes in South Africa a short tandem repeat (STR) assay following recommendations of the International Society for Forensic Genetics (ISFG) was developed and validated. An STR assay comprising of four multiplexes that include 16 STR markers and two gender determination markers was proven to be highly informative with average polymorphic information content (PIC) values of 0.806, 0.646 and 0.725 for <em>A. paradiseus</em>, <em>B. regulorum</em> and <em>B. carunculatus</em> respectively. In addition, the assay showed sufficient discriminatory power for parentage assignment of closely related individuals in all three species (<em>A. paradiseus</em>: PI = 1.7×10<sup>−24</sup>, PIsibs = 4.7×10<sup>−08</sup>, and <em>B. carunculatus</em>: PI = 1.4×10<sup>−19</sup>, PIsibs = 2.9×10<sup>−07</sup> and <em>B. regulorum</em>: PI = 1.7×10<sup>−12</sup>, PIsibs = 5.0×10<sup>−05</sup>). Analysis of 251 samples suggested that the validated multiplex assay ensures reliability, reproducibility, and repeatability for applications in forensic case work where illegal trade of offspring is suspected through verifying parentage of captive birds in breeding facilities.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103100"},"PeriodicalIF":3.2,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324000966/pdfft?md5=02a80839b01d729fd19fdf115b2a0ac5&pid=1-s2.0-S1872497324000966-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790602","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
Rapid detection of blood using a novel application of RT-RPA integrated with CRISPR-Cas: ALAS2 detection as a model 利用 RT-RPA 与 CRISPR-Cas 结合的新型应用快速检测血液:以 ALAS2 检测为模型
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-23 DOI: 10.1016/j.fsigen.2024.103098
Chih-Wen Su , Yi-Che Hsu , Li-Chin Tsai , James Chun-I Lee , Adrian Linacre , Hsing-Mei Hsieh
{"title":"Rapid detection of blood using a novel application of RT-RPA integrated with CRISPR-Cas: ALAS2 detection as a model","authors":"Chih-Wen Su ,&nbsp;Yi-Che Hsu ,&nbsp;Li-Chin Tsai ,&nbsp;James Chun-I Lee ,&nbsp;Adrian Linacre ,&nbsp;Hsing-Mei Hsieh","doi":"10.1016/j.fsigen.2024.103098","DOIUrl":"10.1016/j.fsigen.2024.103098","url":null,"abstract":"<div><p>A rapid, sensitive and specific test for blood is reported based on a novel application of recombinase polymerase amplification integrated with CRISPR-Cas and lateral flow assay (LFA). The blood specific marker ALAS2 was used as the target to record the presence of blood. The assay used either RNA extracted from a body fluid as a template, or omitting this extraction step and using a direct approach where the questioned body fluid was added directly to the assay. The assay only detected blood (all peripheral blood and some menstrual blood samples) and no other body fluid (semen, saliva, or vaginal fluid). The limit of detection varied from an initial template of 0.195 ng extracted RNA (2<sup>7</sup> dilution) or 0.0218 μL (2<sup>6</sup> dilution) liquid peripheral blood. The assay gave the expected result when peripheral blood was mixed with saliva: ratios of peripheral blood/saliva at 19:1, 3:1, 1:1, 1:3 and 1:19 all gave a positive result using extracted RNA. By contrast, only three ratios of peripheral blood and saliva gave a positive result for blood (19:1, 3:1 and 1:1) when adding these two body fluids directly. When peripheral blood was mixed with semen there was a strong inhibition of the assay and ALAS2 could only be detected at ratio of 19:1 using RNA. Using reconstituted peripheral bloodstains gave comparable results to liquid peripheral blood. This is the first application of RT-RPA integrated CRISPR and combined with a LFA assay to detect body fluid-specific RNA. The proposed method opens up the potential to perform this method remote from laboratories such as at crime scenes.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"73 ","pages":"Article 103098"},"PeriodicalIF":3.2,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141850486","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
Unique molecular identifier-based amplicon sequencing of microhaplotypes for background noise mitigation 基于独特分子标识符的扩增片段测序,用于减轻背景噪声
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-17 DOI: 10.1016/j.fsigen.2024.103096
Ye‑Lim Kwon , Kyoung‑Jin Shin
{"title":"Unique molecular identifier-based amplicon sequencing of microhaplotypes for background noise mitigation","authors":"Ye‑Lim Kwon ,&nbsp;Kyoung‑Jin Shin","doi":"10.1016/j.fsigen.2024.103096","DOIUrl":"10.1016/j.fsigen.2024.103096","url":null,"abstract":"<div><p>Microhaplotypes (MHs), comprising two or more single-nucleotide polymorphisms in a short fragment, are promising forensic markers owing to their remarkable polymorphic nature. Several studies have demonstrated the utility of MHs through massively parallel sequencing (MPS). Nevertheless, the background noise level associated with MHs in MPS, which imposes a practical detection limit for the system, remains uninvestigated. Currently, unique molecular identifier (UMI) systems are known to effectively mitigate background noise by tracking original DNA molecules and facilitating PCR and MPS error corrections. Hence, this study aimed to design a UMI-based amplicon sequencing system, designated MH-UMIseq, which can amplify 46 MHs simultaneously and generate MPS libraries in four steps: barcoding PCR, nuclease reaction, boosting PCR, and indexing PCR. The performance of the MH-UMIseq system was evaluated using the Illumina NextSeq 550 and MiniSeq systems with 31 sets for 5 ng, 1 ng, and 200 pg of input DNA. The fgbio toolkit was used in conjunction with STRait Razor 3.0 and Visual Microhap to analyze the UMI data on MHs. The corresponding average <em>not suppressed noise</em> proportion of MH-UMIseq were 0.1 %, 0.3 %, and 0.7 % for 5 ng, 1 ng, and 200 pg of DNA, respectively, which substantially suppressed the background noise for more than 1 ng of DNA. Interestingly, the proportion of <em>not suppressed noise</em> in MH-UMIseq notably decreased as the amount of input DNA increased. The number of UMI families was proportional to the copy number of the template DNA and closely correlated with the system resolution. Therefore, the resolution of MH-UMIseq system is expected to be higher than that of conventional MPS for the deconvolution of mixtures containing more than 1 ng of DNA.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"72 ","pages":"Article 103096"},"PeriodicalIF":3.2,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728997","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
Forensic Science International: Genetics is the leading journal in the field of legal medicine 国际法医学》:遗传学》是法律医学领域的权威期刊。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-17 DOI: 10.1016/j.fsigen.2024.103097
Manfred Kayser , Leonor Gusmão , Adrian Linacre , Walther Parson , Peter Vallone , Angel Carracedo
{"title":"Forensic Science International: Genetics is the leading journal in the field of legal medicine","authors":"Manfred Kayser ,&nbsp;Leonor Gusmão ,&nbsp;Adrian Linacre ,&nbsp;Walther Parson ,&nbsp;Peter Vallone ,&nbsp;Angel Carracedo","doi":"10.1016/j.fsigen.2024.103097","DOIUrl":"10.1016/j.fsigen.2024.103097","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"72 ","pages":"Article 103097"},"PeriodicalIF":3.2,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141725395","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
The advent of forensic DNA databases: It’s time to agree on some international governance principles! 法医 DNA 数据库的出现:是时候商定一些国际管理原则了!
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-07-14 DOI: 10.1016/j.fsigen.2024.103095
Diya Uberoi, Nicole Palmour, Yann Joly
{"title":"The advent of forensic DNA databases: It’s time to agree on some international governance principles!","authors":"Diya Uberoi,&nbsp;Nicole Palmour,&nbsp;Yann Joly","doi":"10.1016/j.fsigen.2024.103095","DOIUrl":"10.1016/j.fsigen.2024.103095","url":null,"abstract":"<div><p>National forensic DNA databases are a valuable investigative tool, that have the potential to increase the efficacy of criminal investigations. Their unfettered expansion in recent years raises unsettling ethical issues that require close attention. DNA database expansion threatens the rights to privacy, non-discrimination, and equality, and can undermine public trust in government. This perspective piece relies on data from an international mapping study of Forensic DNA Databases to document the expansion of these databases, highlight the ethical issues they raise, and propose key recommendations for more responsible use of this infrastructure.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"72 ","pages":"Article 103095"},"PeriodicalIF":3.2,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324000917/pdfft?md5=48d65edc4b93a6963787d424446ff01f&pid=1-s2.0-S1872497324000917-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141637409","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信