Forensic Science International-Genetics最新文献

{"title":"Using simulated microhaplotype genotyping data to evaluate the value of machine learning algorithms for inferring DNA mixture contributor numbers","authors":"Haoyu Wang ,&nbsp;Qiang Zhu ,&nbsp;Yuguo Huang,&nbsp;Yueyan Cao,&nbsp;Yuhan Hu,&nbsp;Yifan Wei,&nbsp;Yuting Wang,&nbsp;Tingyun Hou,&nbsp;Tiantian Shan,&nbsp;Xuan Dai,&nbsp;Xiaokang Zhang,&nbsp;Yufang Wang,&nbsp;Ji Zhang","doi":"10.1016/j.fsigen.2024.103008","DOIUrl":"10.1016/j.fsigen.2024.103008","url":null,"abstract":"<div><p>Inferring the number of contributors (NoC) is a crucial step in interpreting DNA mixtures, as it directly affects the accuracy of the likelihood ratio calculation and the assessment of evidence strength. However, obtaining the correct NoC in complex DNA mixtures remains challenging due to the high degree of allele sharing and dropout. This study aimed to analyze the impact of allele sharing and dropout on NoC inference in complex DNA mixtures when using microhaplotypes (MH). The effectiveness and value of highly polymorphic MH for NoC inference in complex DNA mixtures were evaluated through comparing the performance of three NoC inference methods, including maximum allele count (MAC) method, maximum likelihood estimation (MLE) method, and random forest classification (RFC) algorithm. In this study, we selected the top 100 most polymorphic MH from the Southern Han Chinese (CHS) population, and simulated over 40 million complex DNA mixture profiles with the NoC ranging from 2 to 8. These profiles involve unrelated individuals (RM type) and related pairs of individuals, including parent-offspring pairs (PO type), full-sibling pairs (FS type), and second-degree kinship pairs (SE type). Our results indicated that how the number of detected alleles in DNA mixture profiles varied with the markers’ polymorphism, kinship’s involvement, NoC, and dropout settings. Across different types of DNA mixtures, the MAC and MLE methods performed best in the RM type, followed by SE, FS, and PO types, while RFC models showed the best performance in the PO type, followed by RM, SE, and FS types. The recall of all three methods for NoC inference were decreased as the NoC and dropout levels increased. Furthermore, the MLE method performed better at low NoC, whereas RFC models excelled at high NoC and/or high dropout levels, regardless of the availability of a priori information about related pairs of individuals in DNA mixtures. However, the RFC models which considered the aforementioned priori information and were trained specifically on each type of DNA mixture profiles, outperformed RFC_ALL model that did not consider such information. Finally, we provided recommendations for model building when applying machine learning algorithms to NoC inference.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139413128","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}

{"title":"Age prediction using DNA methylation of Y-chromosomal CpGs in semen samples","authors":"Ji Eun Lee ,&nbsp;Sang Un Park ,&nbsp;Moon Hyun So ,&nbsp;Hwan Young Lee","doi":"10.1016/j.fsigen.2024.103007","DOIUrl":"10.1016/j.fsigen.2024.103007","url":null,"abstract":"<div><p><span><span>In cases of sexual assault, the evidence often exists as a mixture of female and male body fluids, and in many cases, contains a higher proportion of female body fluids than males. In these cases, Y-STR, rather than autosomal STRs, can provide useful information. It becomes very difficult to identify the true suspect if there is no match among known suspects or if a match exists for two or more suspects, e.g. two suspects from the same paternal lineage. However, age prediction using the DNA methylation of Y-chromosomal CpGs can help narrow the search for unknown suspects and discriminate between older and younger suspects. Therefore, the DNA methylation profiles of semen samples from 56 healthy Korean males were generated using Illumina’s </span>Infinium MethylationEPIC BeadChip Array. Among the ten identified age-associated CpG markers located in the Y-chromosome, nine were used to construct age prediction models. The identified markers were further investigated in the MPS analysis of 147 semen samples, and the multiplex assay was validated with the reliability, reproducibility and sensitivity tests. Several age prediction models were constructed using the MPS data with the multiple </span>linear regression<span>, stepwise linear regression, ridge linear regression, lasso regression<span>, elastic net linear regression and support vector machine analyses, and all showed MAEs of 5 to 7 years in the test set samples. Six single-source female samples were also subjected to MPS analysis but showed very low coverage that could not affect the analysis of the mixed samples. Therefore, the age prediction models of the present study are expected to provide useful investigative leads, especially in mixed male and female samples from sexual assault cases.</span></span></p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139394212","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}

{"title":"Retrieving complete plastid genomes of endangered Guibourtia timber using hybridization capture for forensic identification and phylogenetic analysis","authors":"Chuanyang Lin ,&nbsp;Yang Lu ,&nbsp;Shoujia Liu ,&nbsp;Zhaoshan Wang ,&nbsp;Lihong Yao ,&nbsp;Yafang Yin ,&nbsp;Lichao Jiao","doi":"10.1016/j.fsigen.2023.103006","DOIUrl":"10.1016/j.fsigen.2023.103006","url":null,"abstract":"<div><p>The high economic value and increased demand for timber have led to illegal logging and overexploitation, threatening wild populations. In this context, there is an urgent need to develop effective and accurate forensic tools for identifying endangered <em>Guibourtia</em><span> timber species to protect forest ecosystem resources and regulate their trade. In this study, a hybridization capture method was developed and applied to explore the feasibility of retrieving complete plastid genomes from </span><em>Guibourtia</em><span> sapwood and heartwood specimens stored in a xylarium (wood collection). We then carried out forensic identification and phylogenetic analyses of </span><em>Guibourtia</em><span><span> within the subfamily Detarioideae. This study is the first to successfully retrieve high-quality plastid genomes from xylarium specimens, with 76.95–99.97% coverage. The enrichment efficiency, sequence depth, and coverage of plastid genomes from sapwood were 16.73 times, 70.47 times and 1.14 times higher, respectively, than those from heartwood. Although the DNA capture efficiency of heartwood was lower than that of sapwood, the hybridization capture method used in this study is still suitable for heartwood </span>DNA analysis. Based on the complete plastid genome, we identified six endangered or commonly traded </span><em>Guibourtia</em> woods at the species level. This technique also has the potential for geographical traceability, especially for <em>Guibourtia demeusei</em> and <em>Guibourtia ehie</em>. Meanwhile, Bayesian phylogenetic analysis suggested that these six <em>Guibourtia</em><span> species diverged from closely related species within the subfamily Detarioideae ca. 18 Ma during the Miocene. The DNA reference database established based on the xylarium specimens provides admissible evidence for diversity conservation and evolutionary analyses of endangered </span><em>Guibourtia</em> species.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139063618","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}

{"title":"Identifying distant relatives using benchtop-scale sequencing","authors":"August E. Woerner ,&nbsp;Nicole M. Novroski ,&nbsp;Sammed Mandape ,&nbsp;Jonathan L. King ,&nbsp;Benjamin Crysup ,&nbsp;Michael D. Coble","doi":"10.1016/j.fsigen.2023.103005","DOIUrl":"10.1016/j.fsigen.2023.103005","url":null,"abstract":"<div><p><span><span>The genetic component of forensic </span>genetic genealogy (FGG) is an estimate of kinship, often conducted at genome scales between a great number of individuals. The promise of FGG is substantial: in concert with genealogical records and other nongenetic information, it can indirectly identify a person of interest. A downside of FGG is cost, as it is currently expensive and requires chemistries uncommon to forensic genetic laboratories (microarrays and high throughput sequencing). The more common benchtop sequencers can be coupled with a targeted PCR assay to conduct FGG, though such approaches have limited resolution for kinship. This study evaluates low-pass sequencing, an alternative strategy that is accessible to benchtop sequencers and can produce resolutions comparable to high-pass sequencing. Samples from a three-generation pedigree were augmented to include up to 7th degree relatives (using whole genome pedigree simulations) and the ability to recover the true kinship coefficient was assessed using algorithms qualitatively similar to those found in GEDmatch. We show that up to 7th degree relatives can be reliably inferred from 1 × </span>whole genome sequencing obtainable from desktop sequencers.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139063810","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}

{"title":"Development and comparison of forensic interval age prediction models by statistical and machine learning methods based on the methylation rates of ELOVL2 in blood DNA","authors":"Takayuki Yamagishi,&nbsp;Wataru Sakurai,&nbsp;Ken Watanabe,&nbsp;Kochi Toyomane,&nbsp;Tomoko Akutsu","doi":"10.1016/j.fsigen.2023.103004","DOIUrl":"10.1016/j.fsigen.2023.103004","url":null,"abstract":"<div><p><span><span><span>Age estimation can be useful information for narrowing down candidates of unidentified donors in criminal investigations. Various age estimation models based on DNA methylation biomarkers have been developed for forensic usage in the past decade. However, many of these models using ordinary </span>least squares<span> regression cannot generate an appropriate estimation due to the deterioration in prediction accuracy caused by an increased prediction error in older age groups. In the present study, to address this problem, we developed age estimation models that set an appropriate prediction interval for all age groups by two approaches: a statistical method using quantile regression (QR) and a machine learning method using an artificial </span></span>neural network<span> (ANN). Methylation datasets (</span></span><em>n</em> = 1280, age 0–91 years) of the promoter for the gene encoding <span><em>ELOVL fatty acid </em><em>elongase</em><em> 2</em></span> were used to develop the QR and ANN models. By validation using several test datasets, both models were shown to enlarge prediction intervals in accordance with aging and have a high level of correct prediction (&gt;90 %) for older age groups. The QR and ANN models also generated a point age prediction with high accuracy. The ANN model enabled a prediction with a mean absolute error (MAE) of 5.3 years and root mean square error (RMSE) of 7.3 years for the test dataset (<em>n</em> = 549), which were comparable to those of the QR model (MAE = 5.6 years, RMSE = 7.8 years). Their applicability to casework was also confirmed using bloodstain samples stored for various periods of time (1–14 years), indicating the stability of the models for aged bloodstain samples. From these results, it was considered that the proposed models can provide more useful and effective age estimation in forensic settings.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139034886","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}

{"title":"An evaluation of the RapidHIT™ ID system for hair roots stained with Diamond™ Nucleic Acid Dye","authors":"Tabarek Aljumaili,&nbsp;Alicia M. Haines","doi":"10.1016/j.fsigen.2023.103003","DOIUrl":"10.1016/j.fsigen.2023.103003","url":null,"abstract":"<div><p>The RapidHIT™ ID (RHID) system was evaluated for its suitability in processing a single hair root to obtain informative DNA profiles. Hair samples were assessed for nuclear DNA prior to DNA analysis using Diamond™ Nucleic Acid Dye (DD) and real-time Extended Depth of Field (EDF) imaging to visualise and count nuclei if present. Hairs were viewed under an Optico N300F LED Fluorescent Microscope and imaged using a MIchrome 5 Pro camera. Hair roots were processed through both the ACE GlobalFiler™ Express sample cartridge and the RapidINTEL™ sample cartridge. A total of 44 hairs including shed hairs (9) and plucked hairs (35) from 8 donors were evaluated in this study. The processing of hairs using the RHID system required the modification of a standard swab that allowed for hairs to be easily collected and placed into the cartridge but also allowed for the re-collection of hair roots post RHID analysis (for potential standard DNA workflow). 90% of plucked hairs with a high nuclei count (&gt;100) resulted in a high partial or full DNA profile, with the remaining 10% resulting in a low partial profile. 44% of shed hairs resulted in a low partial profile, with the remaining hairs resulting in a null profile. This study demonstrated that the RHID system could successfully obtain a DNA profile from a single hair root with nuclei present post-DD staining. According to these results, it is suggested that when dealing with hairs containing fewer than 50 nuclei, using the RapidINTEL™ cartridge can enhance allele recovery.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497323001783/pdfft?md5=9b267f59bdbf0fa74cdcc151affbca69&pid=1-s2.0-S1872497323001783-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139025488","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}

{"title":"Single-cell investigative genetics: Single-cell data produces genotype distributions concentrated at the true genotype across all mixture complexities","authors":"Catherine M. Grgicak ,&nbsp;Qhawe Bhembe ,&nbsp;Klaas Slooten ,&nbsp;Nidhi C. Sheth ,&nbsp;Ken R. Duffy ,&nbsp;Desmond S. Lun","doi":"10.1016/j.fsigen.2023.103000","DOIUrl":"10.1016/j.fsigen.2023.103000","url":null,"abstract":"<div><p><span><span>In the absence of a suspect the forensic aim is investigative, and the focus is one of discerning what genotypes best explain the evidence. In traditional systems, the list of candidate genotypes may become vast if the sample contains DNA from many donors or the information from a minor contributor is swamped by that of major contributors, leading to lower evidential value for a true donor’s contribution and, as a result, possibly overlooked or inefficient investigative leads. Recent developments in single-cell analysis offer a way forward, by producing data capable of discriminating genotypes. This is accomplished by first clustering single-cell data by similarity without reference to a known genotype. With good clustering it is reasonable to assume that the </span>scEPGs in a cluster are of a single contributor. With that assumption we determine the probability of a cluster’s content given each possible genotype at each locus, which is then used to determine the posterior probability mass distribution for all genotypes by application of Bayes’ rule. A decision criterion is then applied such that the sum of the ranked probabilities of all genotypes falling in the set is at least </span><span><math><mrow><mn>1</mn><mo>−</mo><mi>α</mi></mrow></math></span><span><span>. This is the credible genotype set and is used to inform database search criteria. Within this work we demonstrate the salience of single-cell analysis by performance testing a set of 630 previously constructed admixtures containing up to 5 donors of balanced and unbalanced contributions. We use scEPGs that were generated by isolating single cells, employing a direct-to-PCR extraction treatment, amplifying </span>STRs that are compliant with existing national databases and applying post-PCR treatments that elicit a detection limit of one DNA copy. We determined that, for these test data, 99.3% of the true genotypes are included in the 99.8% credible set, regardless of the number of donors that comprised the mixture. We also determined that the most probable genotype was the true genotype for 97% of the loci when the number of cells in a cluster was at least two. Since efficient investigative leads will be borne by posterior mass distributions that are narrow and concentrated at the true genotype, we report that, for this test set, 47,900 (86%) loci returned only one credible genotype and of these 47,551 (99%) were the true genotype. When determining the LR for true contributors, 91% of the clusters rendered LR&gt;10</span>¹⁸, showing the potential of single-cell data to positively affect investigative reporting.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138817805","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}

{"title":"Differences of circular RNA expression profiles between monozygotic twins' blood, with the forensic application in bloodstain and saliva","authors":"Junyan Wang ,&nbsp;Guangping Fu ,&nbsp;Qian Wang,&nbsp;Guanju Ma,&nbsp;Zhonghua Wang,&nbsp;Chaolong Lu,&nbsp;Lihong Fu,&nbsp;Xiaojing Zhang,&nbsp;Bin Cong ,&nbsp;Shujin Li","doi":"10.1016/j.fsigen.2023.103001","DOIUrl":"10.1016/j.fsigen.2023.103001","url":null,"abstract":"<div><p><span>Monozygotic twins<span><span><span><span> (MZTs) possess identical genomic DNA sequences and are usually indistinguishable through routine forensic </span>DNA typing<span> methods, which can be relevant in criminal and paternity cases. Recently, novel epigenetic methods involving </span></span>DNA methylation and </span>microRNA<span> analysis have been introduced to differentiate MZTs. In this study, we explore the potential of using epigenetic markers, specifically circular RNAs<span><span> (circRNAs), a type of non-coding RNA (ncRNA), to identify MZTs, and investigate the unique expression patterns of circRNAs within pairs of MZTs, enabling effective differentiation. Epigenetics regulates gene expression at the post-transcriptional level and plays a crucial role in cell growth and aging. CircRNAs, a recently characterized subclass of ncRNA, have a distinct covalent loop structure without the typical 5′ cap or 3′ tail. They have been reported to modulate various cellular processes and play roles in </span>embryogenesis and eukaryotic development. To achieve this, we conducted a comprehensive circRNA sequencing analysis (circRNA-seq) using total RNA extracted from the blood samples of five pairs of MZTs. We identified a total of 15,257 circRNAs in all MZTs using circRNA-seq. Among them, 3, 21, 338, and 2967 differentially expressed circRNAs (DEcircRNAs) were shared among five, four, three, and two pairs of MZTs, respectively. Subsequently, we validated twelve selected DEcircRNAs using real-time quantitative polymerase chain reaction (RT-qPCR) assays, which included hsa_circ_0004724, hsa_circ_0054196, hsa_circ_004964, hsa_circ_0000591, hsa_circ_0005077, hsa_circ_0054853, hsa_circ_0054716, hsa_circ_0002302, hsa_circ_0004482, hsa_circ_0001103, novel_circ_0030288 and novel_circ_0056831. Among them, hsa_circ_0005077 and hsa_circ_0004482 exhibited the best performance, showing differences in 7 out of 10 pairs of MZTs. These twelve differentially expressed circRNAs also demonstrated strong discriminative power when tested on saliva samples from 10 pairs of MZTs. Notably, hsa_circ_0004724 displayed differential expression in 8 out of 10 pairs of MZTs in their saliva. Additionally, we evaluated the detection sensitivity, longitudinal temporal stability, and suitability for aged bloodstains of these twelve DEcircRNAs in forensic scenarios. Our findings highlight the potential of circRNAs as </span></span></span></span>molecular markers for distinguishing MZTs, emphasizing their suitability for forensic application.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138817807","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}

{"title":"Assessing the consistency of shedder status under various experimental conditions","authors":"Linda Jansson ,&nbsp;Chiara Siti ,&nbsp;Ronny Hedell ,&nbsp;Christina Forsberg ,&nbsp;Ricky Ansell ,&nbsp;Johannes Hedman","doi":"10.1016/j.fsigen.2023.103002","DOIUrl":"10.1016/j.fsigen.2023.103002","url":null,"abstract":"<div><p>Shedder status is defined as the propensity of an individual to leave DNA behind on touched items or surfaces and has been suggested as one of the major factors influencing DNA transfer. However, little is known about whether shedder status is a constant property of an individual across multiple measurements or when the environmental conditions are changed. We have assessed DNA depositions of six males on 20 occasions to acquire a reference data set and to classify the participants into high, intermediate, or low shedders. This data set was also used to investigate how the probability of a correct shedder status classification changed when the number of DNA deposition measurements increased. Individual sweat rates were measured with a VapoMeter and data regarding hygiene routines were collected through a questionnaire on each sampling occasion. Next, we investigated how changes in the experimental conditions such as seasonal variation, hygiene routines, the temperature of the touched object, and repeated handling of an object influenced the DNA shedding. Additionally, we assessed DNA collected from the face and from T-shirts worn by the six participants to explore whether shedder status may be associated with the relative amount of DNA obtained from other body parts. Our results indicate that shedder status is a stable property across different seasons and different temperatures of handled objects. The relative DNA amounts obtained from repeatedly handled tubes, worn T-shirts, and from faces reflected the shedder status of the participants. We suggest that an individual’s shedder status is highly influenced by the DNA levels on other body parts than hands, accumulating on the palms by frequently touching <em>e.g.</em>, the face or previously handled items harboring self-DNA. Assessing physiological differences between the participants revealed that there were no associations between DNA shedding and individual sweat rates.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497323001771/pdfft?md5=5207d93151693a1b9b01fddc2c939888&pid=1-s2.0-S1872497323001771-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139025567","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}

{"title":"Microsatellites’ mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study","authors":"Sofia Antão-Sousa ,&nbsp;Leonor Gusmão ,&nbsp;Nidia M. Modesti ,&nbsp;Sofía Feliziani ,&nbsp;Marisa Faustino ,&nbsp;Valeria Marcucci ,&nbsp;Claudia Sarapura ,&nbsp;Julyana Ribeiro ,&nbsp;Elizeu Carvalho ,&nbsp;Vania Pereira ,&nbsp;Carmen Tomas ,&nbsp;Marian M. de Pancorbo ,&nbsp;Miriam Baeta ,&nbsp;Rashed Alghafri ,&nbsp;Reem Almheiri ,&nbsp;Juan José Builes ,&nbsp;Nair Gouveia ,&nbsp;German Burgos ,&nbsp;Maria de Lurdes Pontes ,&nbsp;Adriana Ibarra ,&nbsp;Nadia Pinto","doi":"10.1016/j.fsigen.2023.102999","DOIUrl":"10.1016/j.fsigen.2023.102999","url":null,"abstract":"<div><p>The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) organized a collaborative study on mutations of Y-chromosomal short tandem repeats (Y-STRs). New data from 2225 father-son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker-specific mutation rates were estimated for 33 Y-STRs. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497323001746/pdfft?md5=0ebe9ee8d99e769626843f0524f7260b&pid=1-s2.0-S1872497323001746-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138689269","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}