Forensic Science International-Genetics最新文献

{"title":"Developmental validation of an mRNA kit: A 5-dye multiplex assay designed for body-fluid identification","authors":"Yuanyuan Xiao ,&nbsp;Mengyu Tan ,&nbsp;Jinlong Song ,&nbsp;Yihang Huang ,&nbsp;Meili Lv ,&nbsp;Miao Liao ,&nbsp;Zailiang Yu ,&nbsp;Zhixiao Gao ,&nbsp;Shengqiu Qu ,&nbsp;Weibo Liang","doi":"10.1016/j.fsigen.2024.103045","DOIUrl":"https://doi.org/10.1016/j.fsigen.2024.103045","url":null,"abstract":"<div><p>Identifying the sources of biosamples found at crime scenes is crucial for forensic investigations. Among the markers used for body fluid identification (BFI), mRNA has emerged as a well-studied marker because of its high specificity and remarkable stability. Despite this potential, commercially available mRNA kits specifically designed for BFI are lacking. Therefore, we developed an mRNA kit that includes 21 specific mRNA markers of body fluids, along with three housekeeping genes for BFI, to identify four forensic-relevant fluids (blood, semen, saliva, and vaginal fluids). In this study, we tested 451 single-body-fluid samples, validated the universality of the mRNA kit, and obtained a gene expression profile. We performed the validation studies in triplicates and determined the sensitivity, specificity, stability, precision, and repeatability of the mRNA kit. The sensitivity of the kit was found to be 0.1 ng. Our validation process involved the examination of 59 RNA mixtures, 60 body fluids mixtures, and 20 casework samples, which further established the reliability of the kit. Furthermore, we constructed five classifiers that can handle single-body fluids and mixtures using this kit. The classifiers output possibility values and identify the specific body fluids of interest. Our results showed the reliability and suitability of the BFI kit, and the Random Forest classifier performed the best, with 94% precision. In conclusion, we developed an mRNA kit for BFI which can be a promising tool for forensic practice.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140548186","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":"Precision touch DNA sampling on plastic bag knots for improved profiling of packer and holder contributions","authors":"Aleksandra Stefanović,&nbsp;Dejan Šorgić,&nbsp;Nataša Cvetković,&nbsp;Aleksandra Antović,&nbsp;Goran Ilić","doi":"10.1016/j.fsigen.2024.103033","DOIUrl":"https://doi.org/10.1016/j.fsigen.2024.103033","url":null,"abstract":"<div><p>In forensic DNA analysis, evidence sampling stands as a pivotal step setting the ground for the quality of the forensic profiling. The collection of touch DNA from objects, when guidelines are scarce or absent, is usually governed by ad hoc decisions based on the available case circumstances. In our laboratory, in the context of illicit drug-related crimes, similar objects are frequently encountered, offering an opportunity for the standardization of evidence treatment. This study aims to develop an effective method for sampling touch DNA from knots on plastic bags. We examine both the exposed and hidden areas of knots, considering the latter as \"protected\" zones less likely to accumulate biological material during subsequent handling. The study contrasts a single sample method (whole knot surface sampling, Method 1) with dual-sample methods that separate exterior (exposed) and interior (hidden) surfaces of the knot. Notably, our study consistently reveals higher DNA yields from exterior surfaces of the knots as opposed to interior samples. Importantly, our findings demonstrate that utilizing a single sample may produce DNA profiles that are not interpretable, while employing a dual-sample approach may allow for the differentiation between the genetic contributions of the person who tied the knot, the packer, from the person who held the package, the holder. We have refined the dual-sample method to reduce holder DNA in the interior sample while maintaining it on the exterior, also allowing the packer's DNA to be detected on both surfaces. We explore four dual-sample collection methods. Method 2 involves taking the first sample from the exterior and the second from the interior of an untied knot. Method 3 visually differentiates between the original exposed and hidden surfaces for precise sampling. Method 4 employs tools to open the knot for interior sampling. Method 5 uses Diamond dye to highlight cell-free DNA on both surfaces before sampling. In conclusion, this study not only clarifies the complex dynamics of touch DNA transfer and collection on plastic bag knots, but also offers insights into standardizing evidence collection in similar cases.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190660","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":"Deconvoluting multi-person biological mixtures and accurate characterization and identification of separated contributors using non-targeted single-cell DNA sequencing","authors":"Lucie Kulhankova ,&nbsp;Eric Bindels ,&nbsp;Manfred Kayser ,&nbsp;Eskeatnaf Mulugeta","doi":"10.1016/j.fsigen.2024.103030","DOIUrl":"10.1016/j.fsigen.2024.103030","url":null,"abstract":"<div><p>The genetic characterization and identification of individuals who contributed to biological mixtures are complex and mostly unresolved tasks. These tasks are relevant in various fields, particularly in forensic investigations, which frequently encounters crime scene stains generated by more than one person. Currently, forensic mixture deconvolution is mostly performed subsequent to forensic DNA profiling at the level of the mixed DNA profiles, which comes with several limitations. Some previous studies attempted at separating single cells prior to forensic DNA profiling. However, these approaches are biased at selection of the cells and, due to their targeted DNA analysis on low template DNA, provide incomplete and unreliable forensic DNA profiles. We recently demonstrated the feasibility of performing mixture deconvolution prior to forensic DNA profiling through the utilization of a non-targeted single-cell transcriptome sequencing (scRNA-seq). In addition to individual-specific mixture deconvolution, this approach also allowed accurate characterisation of biological sex, biogeographic ancestry and individual identification of the separated mixture contributors. However, RNA has the forensic disadvantage of being prone to degradation, and sequencing RNA - focussing on coding regions - limits the number of single nucleotide polymorphisms (SNPs) utilized for genetic mixture deconvolution, characterization, and identification. These limitations can be overcome by performing single-cell sequencing on the level of DNA instead of RNA. Here, for the first time, we applied non-targeted single-cell DNA sequencing (scDNA-seq) by applying the scATAC-seq (Assay for Transposase-Accessible Chromatin with sequencing) technique to address the challenges of mixture deconvolution in the forensic context. We demonstrated that scATAC-seq, together with our recently developed De-goulash data analysis pipeline, is capable of deconvoluting complex blood mixtures of five individuals from both sexes with varying biogeographic ancestries. We further showed that our approach achieved correct genetic characterization of the biological sex and the biogeographic ancestry of each of the separated mixture contributors and established their identity. Furthermore, by analysing <em>in-silico</em> generated scATAC-seq data mixtures, we demonstrated successful individual-specific mixture deconvolution of i) highly complex mixtures of 11 individuals, ii) balanced mixtures containing as few as 20 cells (10 per each individual), and iii) imbalanced mixtures with a ratio as low as 1:80. Overall, our proof-of-principle study demonstrates the general feasibility of scDNA-seq in general, and scATAC-seq in particular, for mixture deconvolution, genetic characterization and individual identification of the separated mixture contributors. Furthermore, it shows that compared to scRNA-seq, scDNA-seq detects more SNPs from fewer cells, providing higher sensitivity, that is valuable in ","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324000243/pdfft?md5=70e4d6c76990fd2f3f658d7041bfeb64&pid=1-s2.0-S1872497324000243-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140152935","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":"A preliminary study on identification of the blood donor in a body fluid mixture using a novel compound genetic marker blood-specific methylation-microhaplotype","authors":"Xuan Tang ,&nbsp;Dan Wen ,&nbsp;Xin Jin ,&nbsp;Chudong Wang ,&nbsp;Wei Xu ,&nbsp;Weifeng Qu ,&nbsp;Ruyi Xu ,&nbsp;Hongtao Jia ,&nbsp;Yi Liu ,&nbsp;Xue Li ,&nbsp;Siqi Chen ,&nbsp;Xiaoyi Fu ,&nbsp;Bin Liang ,&nbsp;Jienan Li ,&nbsp;Ying Liu ,&nbsp;Lagabaiyila Zha","doi":"10.1016/j.fsigen.2024.103031","DOIUrl":"https://doi.org/10.1016/j.fsigen.2024.103031","url":null,"abstract":"<div><p>Blood-containing mixtures are frequently encountered at crime scenes involving violence and murder. However, the presence of blood, and the association of blood with a specific donor within these mixtures present significant challenges in forensic analysis. In light of these challenges, this study sought to address these issues by leveraging blood-specific methylation sites and closely linked microhaplotype sites, proposing a novel composite genetic marker known as “blood-specific methylation-microhaplotype”. This marker was designed to the detection of blood and the determination of blood donor within blood-containing mixtures. According to the selection criteria mentioned in the Materials and Methods section, we selected 10 blood-specific methylation-microhaplotype loci for inclusion in this study. Among these loci, eight exhibited blood-specific hypomethylation, while the remaining two displayed blood-specific hypermethylation. Based on data obtained from 124 individual samples in our study, the combined discrimination power (CPD) of these 10 successfully sequenced loci was 0.999999298. The sample allele methylation rate (Ram) was obtained from massive parallel sequencing (MPS), which was defined as the proportion of methylated reads to the total clustered reads that were genotyped to a specific allele. To develop an allele type classification model capable of identifying the presence of blood and the blood donor, we used the Random Forest algorithm. This model was trained and evaluated using the Ram distribution of individual samples and the Ram distribution of simulated shared alleles. Subsequently, we applied the developed allele type classification model to predict alleles within actual mixtures, trying to exclude non-blood-specific alleles, ultimately allowing us to identify the presence of blood and the blood donor in the blood-containing mixtures. Our findings demonstrate that these blood-specific methylation-microhaplotype loci have the capability to not only detect the presence of blood but also accurately associate blood with the true donor in blood-containing mixtures with the mixing ratios of 1:29, 1:19, 1:9, 1:4, 1:2, 2:1, 7:1, 8:1, 31:1 and 36:1 (blood:non-blood) by DNA mixture interpretation methods. In addition, the presence of blood and the true blood donor could be identified in a mixture containing four body fluids (blood:vaginal fluid:semen:saliva = 1:1:1:1). It is important to note that while these loci exhibit great potential, the impact of allele dropouts and alleles misidentification must be considered when interpreting the results. This is a preliminary study utilising blood-specific methylation-microhaplotype as a complementary tool to other well-established genetic markers (STR, SNP, microhaplotype, etc.) for the analysis in blood-containing mixtures.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140137726","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":"A preliminary report on the exploration of salivary bacterial diversity by the multiplex SNaPshot assay","authors":"Shuangshuang Wang ,&nbsp;Feng Song ,&nbsp;Xiangnan Guo ,&nbsp;Liya Gu ,&nbsp;Weijia Tan ,&nbsp;Peiyan Wu ,&nbsp;Weibo Liang ,&nbsp;Haibo Luo ,&nbsp;Yanyun Wang","doi":"10.1016/j.fsigen.2024.103032","DOIUrl":"https://doi.org/10.1016/j.fsigen.2024.103032","url":null,"abstract":"<div><p>Salivary bacterial community composition is associated with the host’s internal and environmental factors, which have potential applications in forensic practice. The 16S rRNA gene sequencing is the most commonly used strategy for detecting salivary bacterial diversity; however, its platforms are not compatible with capillary electrophoresis (CE) platforms commonly used for forensic applications. Therefore, we attempted to detect the salivary bacterial diversity using a single nucleotide polymorphism (SNP) assay. Salivary bacterial diversity varies among diverse geographic locations, making it a potential supplementary biomarker for forensic geographic sourcing. To evaluate the performance of the multiplex SNaPshot assay, saliva samples from three geographic locations in China were analyzed using the multiplex SNaPshot assay and 16S rRNA gene sequencing. We screened SNPs from two high-relative-abundance salivary genera (<em>Streptococcus</em> and <em>Veillonella</em>) to construct a multiplex SNaPshot system that can be used on the CE platform. The stability and sensitivity of the multiplex SNaPshot system were also tested. A random forest classification model was used to classify samples from different regions to explore the ability of salivary bacteria to discriminate between geographic sources. Six bacterial SNPs were screened and a multiplex SNaPshot system was constructed. The stability results showed that the typing of salivary stains that were placed indoors for different days was not affected in this study. Two-thirds of mocked salivary stain samples showed more than 90% of typing results obtained for salivary stain samples with an input of 0.1 µl saliva. The results of principal coordinate analysis based on salivary bacterial diversity showed significant differences between samples from the three different geographic locations. The accuracy of the random forest classification was 66.67% based on the multiplex SNaPshot assay and 83.33% based on the 16S rRNA gene sequencing. In conclusion, this is the first attempt to detect salivary bacterial diversity using a multiplex SNaPshot bacterial SNP assay. The geographic difference in human salivary bacterial community composition was significant, as revealed by the multiplex SNaPshot assay; however, its performance in discriminating geographic sources was lower than that of 16S rRNA gene sequencing. This strategy based on bacterial SNP loci may favor the detection of human bacterial diversity in common forensic laboratories but requires further exploration in larger sample sizes and more bacterial SNP loci.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140162553","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 validation of YARN: A novel SE-400 MPS kit for East Asian paternal lineage analysis","authors":"Haoliang Fan ,&nbsp;Yiran Xu ,&nbsp;Yutao Zhao ,&nbsp;Kai Feng ,&nbsp;Liuxi Hong ,&nbsp;Qiancheng Zhao ,&nbsp;Xiaoyu Lu ,&nbsp;Meisen Shi ,&nbsp;Haiyan Li ,&nbsp;Lingxiang Wang ,&nbsp;Shaoqing Wen","doi":"10.1016/j.fsigen.2024.103029","DOIUrl":"10.1016/j.fsigen.2024.103029","url":null,"abstract":"<div><p>Y-chromosomal short tandem repeat polymorphisms (Y-STRs) and Y-chromosomal single nucleotide polymorphisms (Y-SNPs) are valuable genetic markers used in paternal lineage identification and population genetics. Currently, there is a lack of an effective panel that integrates Y-STRs and Y-SNPs for studying paternal lineages, particularly in East Asian populations. Hence, we developed a novel Y-chromosomal targeted panel called YARN (Y-chromosome Ancestry and Region Network) based on multiplex PCR and a single-end 400 massive parallel sequencing (MPS) strategy, consisting of 44 patrilineage Y-STRs and 260 evolutionary Y-SNPs. A total of 386 reactions were validated for the effectiveness and applicability of YARN according to SWGDAM validation guidelines, including sensitivity (with a minimum input gDNA of 0.125 ng), mixture identification (ranging from 1:1–1:10), PCR inhibitor testing (using substances such as 50 μM hematin, 100 μM hemoglobin, 100 μM humic acid, and 2.5 mM indigo dye), species specificity (successfully distinguishing humans from other animals), repeatability study (achieved 100% accuracy), and concordance study (with 99.91% accuracy for 1121 Y-STR alleles). Furthermore, we conducted a pilot study using YARN in a cohort of 484 Han Chinese males from Huaiji County, Zhaoqing City, Guangdong, China (GDZQHJ cohort). In this cohort, we identified 52 different Y-haplogroups and 73 different surnames. We found weak to moderate correlations between the Y-haplogroups, Chinese surnames, and geographical locations of the GDZQHJ cohort (with λ values ranging from 0.050 to 0.340). However, when we combined two different categories into a new independent variable, we observed stronger correlations (with λ values ranging from 0.617 to 0.754). Overall, the YARN panel, which combines Y-STR and Y-SNP genetic markers, meets forensic DNA quality assurance guidelines and holds potential for East Asian geographical origin inference and paternal lineage analysis.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140071949","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":"Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations","authors":"Lila Krebs-Drouot ,&nbsp;Audrey Schalk ,&nbsp;Elise Schaefer ,&nbsp;Christine Keyser ,&nbsp;Angela Gonzalez ,&nbsp;Nadège Calmels ,&nbsp;Marie-Thérèse Abi Wardé ,&nbsp;Laetitia Oertel ,&nbsp;C.écile Acquaviva ,&nbsp;Jean-Louis Mandel ,&nbsp;Audrey Farrugia","doi":"10.1016/j.fsigen.2024.103028","DOIUrl":"10.1016/j.fsigen.2024.103028","url":null,"abstract":"<div><h3>Introduction</h3><p>Sudden Unexplained Death in Childhood (SUDC) needs to be fully assessed considering its impact on the family, parents and siblings. Inborn Errors of Metabolism (IEM) such as Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) should be taken into consideration when SUDC occurres. Our aim is to present a family with two successive SUDC and to discuss the post-mortem genetics investigations revealing an IEM implication.</p></div><div><h3>Cases report</h3><p>A complete autopsy with genetic testing was performed when the proband, a 4-year-old girl, died. A few years previously, her older brother had died at the same age and off the same condition. Years later, his exhumation was necessary in order to perform a post-mortem diagnosis.The two siblings were revealed to have had the same pathogenic genotype of the <em>ACADM</em> gene, heterozygous substitutions in <em>ACADM</em> (NM_000016.5): c.985 A&gt;G p.(Lys329Glu) and c.347 G&gt;A p.(Cys116Tyr). In addition, they also both carried a VUS in <em>TECRL</em>, a gene implicated in Catecholaminergic Polymorphic Tachycardia Ventricular (CPVT) and SUDC.</p></div><div><h3>Conclusion</h3><p>We illustrate the importance of exome analyses for investigating unexplained sudden death, especially in children, with the possible impact for genetic counselling in the family. The finding of the implication of <em>ACADM</em> gene in this case, raises likely responsibility of the public health system in countries such as France, who delayed implementation of new born screening for these conditions. Exome analyses in this case detected unexpected complexity in interpretation linked to the identification of a second candidate gene for SUDC.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140071953","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":"African and Asian elephant ivory discrimination using a portable strip test","authors":"Phuvadol Thanakiatkrai ,&nbsp;Chanokkarn Chenphun ,&nbsp;Thitika Kitpipit","doi":"10.1016/j.fsigen.2024.103027","DOIUrl":"https://doi.org/10.1016/j.fsigen.2024.103027","url":null,"abstract":"<div><p>Currently, the global elephant population has significantly declined due to the poaching of elephants for their ivory, and this is the reason why elephants are listed in the Convention on International Trade in Endangered Species of Wild Fauna and Flora (CITES). However, Thailand allows the legal trade of ivory from registered, domesticated Asian elephants, leading to the smuggling of African elephant ivory, and passing them off as Asian elephant ivory. Therefore, this research aims to develop and validate a portable strip test to discriminate between Asian and African elephants DNA, using Recombinase Polymerase Amplification (RPA) and Lateral Flow Dipstick assay (LFD) according to international standards. The results showed that the strip test can be successfully developed with 100% accuracy (n = 105). This kit is specific to elephants, has a detection limit of 0.125 ng of DNA, and can effectively discriminate a variety of elephant ivory, including raw ivory, ivory products, and aged ivory over 25 years old, which had been damaged by fire, all with 100% accuracy (n = 117). Additionally, the developed strip test is designed to be portable and cost-effective. It does not require expensive laboratory equipment and provides a faster analysis process compared with conventional PCR-based methods. This will expedite the legal process and enforcement of laws related to elephant conservation, reducing the opportunities for illegal activities, and enabling timely prosecution under relevant wildlife conservation laws in Thailand and internationally.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139992386","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":"The Missing Person problem through the lens of information theory","authors":"Franco Marsico ,&nbsp;Gustavo Sibilla ,&nbsp;Ma Soledad Escobar ,&nbsp;Ariel Chernomoretz","doi":"10.1016/j.fsigen.2024.103025","DOIUrl":"https://doi.org/10.1016/j.fsigen.2024.103025","url":null,"abstract":"<div><p>Missing person cases typically require a genetic kinship test to determine the relationship between an unidentified individual and the relatives of the missing person. When not enough genetic evidence has been collected the lack of statistical power of these tests might lead to unreliable results. This is particularly true when just a few distant relatives are available for genotyping. In this contribution, we considered a Bayesian network approach for kinship testing and proposed several information theoretic metrics in order to quantitatively evaluate the information content of pedigrees. We show how these statistics are related to the widely used likelihood ratio values and could be employed to efficiently prioritize family members in order to optimize the statistical power in missing person problems. Our methodology seamlessly integrates with Bayesian modeling approaches, like the GENis platform that we have recently developed for high-throughput missing person identification tasks. Furthermore, our approach can also be easily incorporated into Elston-Stewart forensic frameworks. To facilitate the application of our methodology, we have developed the <span>forensIT</span> package, freely available on CRAN repository, which implements all the methodologies described in our manuscript.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139907997","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":"DEPArray™ single-cell technology: A validation study for forensic applications","authors":"Janine Schulte ,&nbsp;Amke Caliebe ,&nbsp;Michael Marciano ,&nbsp;Pia Neuschwander ,&nbsp;Ilona Seiberle ,&nbsp;Eva Scheurer ,&nbsp;Iris Schulz","doi":"10.1016/j.fsigen.2024.103026","DOIUrl":"10.1016/j.fsigen.2024.103026","url":null,"abstract":"<div><p>In forensics investigations, it is common to encounter biological mixtures consisting of homogeneous or heterogeneous components from multiple individuals and with different genetic contributions. One promising mixture deconvolution strategy is the DEPArray™ technology, which enables the separation of cell populations before genetic analysis. While technological advances are fundamental, their reliable validation is crucial for successful implementation and use for casework. Thus, this study aimed to 1) systematically validate the DEPArray™ system concerning specificity, sensitivity, repeatability, and contamination occurrences for blood, epithelial, and sperm cells, and 2) evaluate its potential for single-cell analysis in the field of forensic science. Our findings confirmed the effective identification of different cell types and the correct assignment of successfully genotyped single cells to their respective donor(s). Using the NGM Detect™ Amplification Kit, the average profile completeness for diploid cells was approximately 80%, with ∼ 290 RFUs. In contrast, haploid sperm analysis yielded an average completeness of 51% referring to the haploid reference profile, accompanied by mean peak heights of ∼ 176 RFUs. Although certain alleles of heterozygous loci in diploid cells showed strong imbalances, the overall peak balances yielded acceptable values above ≥ 60% with a mean value of 72% ± 0.21, a median of 77%, but with a maximum imbalance of 9% between heterozygous peaks. Locus dropouts were considered stochastic events, exhibiting variations among donors and cell types, with a notable failure incidence observed for TH01. Within the wet-lab experimentation with &gt;500 single cells for the validation, profiling was performed using the consensus approach, where profiles were selected randomly from all data to better mirror real casework results. Nevertheless, complete profiles could be achieved with as few as three diploid cells, while the average success rate increased to 100% when using profiles of 6–10 cells. For sperms, however, a consensus profile with completeness &gt;90% of the autosomal diploid genotype could be attained using ≥15 cells. In addition, the robustness of the consensus approach was evaluated in the absence of the respective reference profile without severe deterioration. Here, increased stutter peaks (≥ 15%) were found as the main artifact in single-cell profiles, while contamination and drop-ins were ascertained as rare events. Lastly, the technique’s potential and limitations are discussed, and practical guidance is provided, particularly valuable for cold cases, multiple perpetrator rapes, and analyses of homogeneous mixed evidence.</p></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1872497324000206/pdfft?md5=bb1e4257761abeba93da7ad56a47fe80&pid=1-s2.0-S1872497324000206-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139965520","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}