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Next‐generation sequencing (NGS) technologies have expanded the spectrum of forensic DNA analysis by facilitating efficient and precise genotyping of a large number of genetic markers. Yet, challenges persist regarding complex sample processing and assurance of equal molar concentrations across pooled samples. Since optimal cluster density is crucial for sequencing performance, the determination of both quantity and quality is indispensable for library preparation. In this study, we investigated the application of the Agilent 2100 Bioanalyzer for library quality control, as studies for forensic approaches, particularly for highly degraded postmortem samples, are rare. Our analysis encompassed assessing total DNA concentrations, fluorescence unit (FU) values, and adapter dimer concentrations in purified DNA libraries derived from buccal swabs and tissue samples of decomposed corpses. The sensitivity study tested a serial dilution derived from buccal swabs and revealed a decrease in FU values and an increase in adapter dimers with declining DNA input concentrations. Deviations in total DNA concentrations and average peak heights between the Agilent 2100 Bioanalyzer runs indicated a lack of repeatability in data and presented challenges in accurate quantification, which was also observed in previous studies. Yet, the analysis of degraded samples from decomposed human remains has shown the ability to detect adapter dimer concentrations, which can be crucial for the quality of subsequent NGS library preparation and sequencing success. Therefore, the Agilent 2100 Bioanalyzer proves to be a valuable tool for NGS quality control. [ABSTRACT FROM AUTHOR]

DNA mixture analysis poses a significant challenge in forensic genetics, particularly when dealing with degraded and trace amount DNA samples. Multi-SNPs (MNPs) are genetic markers similar to microhaplotypes but with smaller molecular sizes (< 75 bp), making them theoretically more suitable for analyzing degraded and trace amount samples. In this case report, we investigated a cold case involving a campstool stored for over a decade, aiming to detect and locate the suspect's DNA. We employed both conventional capillary electrophoresis-based short tandem repeat (CE-STR) analysis and next-generation sequencing-based multi-SNP (NGS-MNP) analysis. The typing results and deconvolution of the mixed CE-STR profiles were inconclusive regarding the presence of the suspect's DNA in the mixed samples. However, through NGS-MNP analysis and presence probability calculations, we determined that the suspect's DNA was present in the samples from Sect. 4−1 with a probability of 1-8.41 × 10− 6 (99.999159%). This evidence contradicted the suspect's statement and aided in resolving the case. Our findings demonstrate the significant potential of MNP analysis for examining degraded and trace amount DNA mixtures in forensic investigations. [ABSTRACT FROM AUTHOR]

STR loci localized on the X chromosome provide information additional to the autosomal markers routinely analyzed in forensic genetics, integrating genetic systems as Y-STRs and mitochondrial DNA in the investigation of complex kinship scenarios and mass disaster cases. In this study we genotyped 12 X-STR loci in 251 male samples from four populations of Namibia in southern Africa using the Investigator Argus X-12 kit (Qiagen, Hilden, Germany). Forensic efficiency parameters indicated high power of discrimination in the considered populations. As part of our investigation, we highlighted partial linkage associations between loci within known linkage groups (LGs) and identified several occurrences of previously unreported out-of-ladder (OL) alleles. Genetic distances between the Namibian populations here investigated and other African (Eritrea, Ethiopia, Somalia, Guinea, Cape Verde) and non-African (Germany, China, Philippines) populations using loci grouped in LGs mirrored their biogeographical distribution differently for each linkage group. Haplotype sharing within each LG revealed a high degree of population-specific types, hinting to the potential of these markers for ancestry applications. These results highlight the importance to produce specific and freely available population databases especially for multi-ethnic countries. This novel dataset is expected to be of interest for population studies that need an accessible reference dataset of African regions not currently well represented, as well as possible relevance for forensic applications focusing on the biogeographic origin of samples. [ABSTRACT FROM AUTHOR]

Background: In the domain of forensic science, the application of kinship identification and mixture deconvolution techniques are of critical importance, providing robust scientific evidence for the resolution of complex cases. Microhaplotypes, as the emerging class of genetic markers, have been widely studied in forensics due to their high polymorphisms and excellent stability. Results and discussion: In this research, a novel and high-efficient panel integrating 33 microhaplotype loci along with a sex-determining locus was developed by the next generation sequencing technology. In addition, we also assessed its forensic utility and delved into its capacity for kinship analysis and mixture deconvolution. The average effective number of alleles (Ae) of the 33 microhaplotype loci in the Guizhou Han population was 6.06, and the Ae values of 30 loci were greater than 5. The cumulative power of discrimination and cumulative power of exclusion values of the novel panel in the Guizhou Han population were 1-5.6 × 10− 43 and 1-1.6 × 10− 15, respectively. In the simulated kinship analysis, the panel could effectively distinguish between parent-child, full-sibling, half-sibling, grandfather-grandson, aunt-nephew and unrelated individuals, but uncertainty rates clearly increased when distinguishing between first cousins and unrelated individuals. For the mixtures, the novel panel had demonstrated excellent performance in estimating the number of contributors of mixtures with 1 to 5 contributors in combination with the machine learning methods. Conclusions: In summary, we have developed a small and high-efficient panel for forensic genetics, which could provide novel insights into forensic complex kinships testing and mixture deconvolution. [ABSTRACT FROM AUTHOR]

Introduction: Non-alcoholic fatty liver disease (NAFLD) is the most prevalent form of chronic liver disease in the world, and it is characterized by an excessive hepatic fat accumulation in more than 5% of hepatocytes documented by histology in the absence of alcohol consumption. It is a multifactorial pathology, where genetic component plays a fundamental role: the loss-offunction polymorphisms of genes coding for glutathione S-transferases would predispose to the pathology onset, also in the absence of other risk factors. The aim of the study was to evaluate the relation between the "NULL" GST-T1 and GST-M1 polymorphisms and the onset of NAFLD. Methods: A group of 117 "apparently healthy" Caucasian volunteers, selected from a larger population through the analysis of previously administered short questionnaires, underwent both magnetic resonance imaging-proton density fat fraction (MRI-PDFF) and buccal swabs: the aim was to identify the possible presence of hepatic steatosis and of the aforementioned "NULL" polymorphisms of interest. Results: A statistically significant association between the GST-T1 and GST-M1 "NULL" genotypes and the probability of developing NAFLD has been identified. In particular, the GST-T1 "NULL" genotype has been associated with a greater probability of developing steatosis in early age, while the GST-M1 "NULL" genotype seems to increase the risk of developing a higher grade of steatosis. No statistically significant correlations between the "NULL" genotype and sex have been detected. Discussion: Among the numerous risk factors capable of predisposing to NAFLD onset and progression, the genetic factors seem to play an important role. In particular, GST-T1 and GST-M1 "NULL" polymorphisms would appear to acquire even greater importance, as their loss of function results in an increase of oxidative stress. At high concentrations, ROS can determine oxidative modifications of cellular macromolecules, such as lipids, determining their accumulation into hepatocytes. The study also highlighted the importance of MRI-PDFF for hepatic steatosis diagnosis: this method allows the acquisition of data comparable to those of conventional biopsy; however, it permits the entire liver parenchyma to be visualized. Conclusion: A statistically significant correlation between the presence of GSTT1 and GST-M1 "NULL" genotypes and the presence of hepatic steatosis has been found. [ABSTRACT FROM AUTHOR]

Background: Investigative genetic genealogy (IGG) is a technique that involves uploading genotypes developed from perpetrator DNA left at a crime scene, or DNA from unidentified remains, to public genetic genealogy databases to identify genetic relatives and, through the creation of a family tree, the individual who was the source of the DNA. As policymakers demonstrate interest in regulating IGG, it is important to understand public perspectives on IGG to determine whether proposed policies are aligned with public attitudes. Methods: We conducted eight focus groups with members of the public (N = 72), sampled from four geographically diverse US regions, to explore general attitudes and perspectives regarding aspects of IGG practices, applications, and policies. Five major topics were explored in each focus group: when IGG should be used; who should perform IGG; how to approach consent for genetic database users; what systems of oversight should govern IGG practitioners; and whether to notify database users if their data are involved in law enforcement (LE) matching. Results: Participants were supportive of IGG in most scenarios, especially for cold and violent cases. The favorable attitudes toward IGG were, however, tempered by distrust of law enforcement among some participants. All participants agreed that databases must inform users if IGG is allowed, but they did not agree on how individual database users should be allowed to opt out or whether to notify them if their data are involved in specific investigations. All participants agreed that IGG should be subject to some prescriptive guidelines, regulations, or accountability mechanisms. Conclusions: These findings suggest broad public support for IGG, and interest in developing systems of accountability for its practice. Our study provides useful insight for policy makers, genomic database stewards, law enforcement, and other stakeholders in IGG's practice, and suggests multiple directions for future research. [ABSTRACT FROM AUTHOR]

Copyright of Forensic Science & Technology is the property of Institute of Forensic Science, Ministry of Public Security and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Forensic Science & Technology is the property of Institute of Forensic Science, Ministry of Public Security and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Forensic Science & Technology is the property of Institute of Forensic Science, Ministry of Public Security and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Forensic Science & Technology is the property of Institute of Forensic Science, Ministry of Public Security and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: This study aimed to evaluate the utility of 24 single nucleotide polymorphism (SNP) loci associated with iris color and hair color in phenotypic identification of the Han Chinese population in Fujian Province. The selected SNPs, known for their strong correlation with specific human phenotypic features, provide valuable reference data for developing a molecular phenotypic identification system. Methods: A multiplex genotyping assay system was established with primers for the 24 SNPs linked to iris color and hair color synthesized based on existing literature. In total, 235 unrelated individuals of Han Chinese ethnicity in Fujian Province were included in this study. PowerStats v12 was employed to calculate forensic parameters associated with the 24 SNP loci, including gene frequencies, genotype frequencies, minor allele frequencies, discrimination power (DP), polymorphism information content (PIC), and observed heterozygosity (Ho). Hardy- Weinberg equilibrium tests were conducted for each locus. The SNP genotyping results were uploaded to the HIrisPlex model (https://HIrisPlex.erasmusmc.nl/) to predict iris and hair colors, and the inferred results were compared with manually assessed images. The accuracy of pigment phenotype inference was evaluated by using ROC curves in SPSS 26.0 software. Results: The accuracy rates of inferring brown iris and black hair phenotypes were 99.6% and 99.5%. The area under the curve (AUC) values were 0.923 and 0.980, respectively. Conclusions: The 24 SNP loci demonstrated high accuracy in inferring iris color and hair color; it seems to be a useful tool for forensic phenotypic identification and anthropological or evolutionary applications. Establishment of suitable pigment classification criteria and optimized prediction models is based on revealing more phenotypic genetic markers. [ABSTRACT FROM AUTHOR]

In forensic genetics, utilizing massively parallel sequencing (MPS) to analyze short tandem repeats (STRs) has demonstrated several advantages compared to conventional capillary electrophoresis (CE). Due to the current technical limitations, although flanking region polymorphisms had been mentioned in several previous studies, most studies focused on the core repeat regions of STRs or the variations in the adjacent flanking regions. In this study, we developed an MPS system consisting of two sets of multiplex PCR systems to detect not only the STR core repeat regions but also to observe variants located at relatively distant positions in the flanking regions. The system contained 42 commonly used forensic STRs, including 21 autosomal STRs (A-STRs) and 21 Y-chromosomal STRs (Y-STRs), and a total of 350 male individuals from a Chinese Han population were genotyped. The length and sequence variants per locus were tallied and categorized based on length (length-based, LB), sequence without flanking region (core repeat regions sequence-based, RSB), and sequence with flanking region (core repeat and flanking regions sequence-based, FSB), respectively. Allele frequencies, Y-haplotype frequencies, and forensic parameters were calculated based on LB, RSB, and FSB, respectively, to evaluate the improvement in discrimination power, heterozygosity, and effectiveness of forensic systems. The results suggested the sequence variations have more influence on A-STRs and could improve the identification ability of MPS-STR genotyping. Concordance between MPS and CE methods was confirmed by using commercial CE-based STR kits. The impact of flanking region variations on STR genotype analysis and potential factors contributing to discordances were discussed. A total of 58 variations in the flanking regions (53 SNPs/SNVs and 5 InDels) were observed and most variations (48/58) were distributed in A-STRs. In summary, this study delved deeper into the genetic information of forensic commonly used STR and advanced the application of massively parallel sequencing in forensic genetics. [ABSTRACT FROM AUTHOR]

The authors present the case of a 61-year-old man found dead in an agricultural plot. The first investigation of the scene revealed the corpse laid face up in a spot of partially dried blood, next to an olive tree. His face, arms, legs, and abdomen showed signs of severe contusion and laceration of dogs' bite wounds. Next to the victim, an olives bin had been found overturned on the ground. A multi-disciplinary approach, including crime scene analysis, autopsy findings, veterinary animals review, odontologist bite mark study, and forensic genetics DNA correlations, was performed. The present case is a documented watchdogs lethal pack attack and provides an example of how to recognize the more active participants thanks to their odontological alterations. It could be considered the first described dog pack attack case solved by dysgnathia alteration. Comparisons between the dental casts obtained from the dogs and the inflicted wounds were made, resulting in positive correlations between the injuries and the dental arches from two of the six involved dogs, thanks to dental abnormalities and DNA founding. The victim's clothes were also compared with the dogs' dental casts, confirming that they were the most active participants during the pack attack. Dogs' DNA was finally matched with saliva traces found on victim's clothes and skin bite marks. [ABSTRACT FROM AUTHOR]

Reducing the time required for DNA analysis in forensic genetics can yield significant benefits, both in determining genealogical relationships for legal proceedings and in criminal cases. Swift identification of individuals plays a pivotal role in solving crimes and apprehending perpetrators. Additionally, in situations like mass disasters, prompt victim identification holds utmost importance. The Rapid DNA technology, introduced in 2012 to expedite DNA analysis, has evolved to streamline the process into a single step. This advancement not only minimizes the risk of human error and contamination, but also boasts a remarkable time advantage, delivering results in as little as 90 min. In this study, DNA profiles of 30 families (consisting of mothers, fathers, and children) were analyzed using the RapidHITTM ID System. The system automatically calculated maternity-paternity probabilities to assess the suitability of Rapid DNA technology for kinship analysis. For validation, DNA profiles were also generated using the 3500 GA method. The study revealed that 9 out of 30 families exhibited discrepancies in DNA profiling, leading to inaccuracies in automatic kinship analysis. Consequently, while the method offers rapid and user-friendly advantages for forensic sciences, the software underlying the system requires re-evaluation. Issues such as maternal-paternal exclusion in kinship analyses, arising from challenges like un-called alleles, warrant further attention. [ABSTRACT FROM AUTHOR]

The introduction of PCR into forensic science and the rapid increases in the sensitivity, specificity and discrimination power of DNA profiling that followed have been fundamental in shaping the field of forensic biology. Despite these developments, the challenges associated with the DNA profiling of trace, inhibited and degraded samples remain. Thus, any improvement to the performance of sub-optimal samples in DNA profiling would be of great value to the forensic community. The potential exists to optimise the PCR performance of samples by altering the cycling conditions used. If the effects of changing cycling conditions upon the quality of a DNA profile can be well understood, then the PCR process can be manipulated to achieve a specific goal. This work is a proof-of-concept study for the development of a smart PCR system, the theoretical foundations of which are outlined in part 1 of this publication. The first steps needed to demonstrate the performance of our smart PCR goal involved the manual alteration of cycling conditions and assessment of the DNA profiles produced. In this study, the timing and temperature of the denaturation and annealing stages of the PCR were manually altered to achieve the goal of reducing PCR runtime while maintaining an acceptable quality and quantity of DNA product. A real-time feedback system was also trialled using an STR PCR and qPCR reaction mix, and the DNA profiles generated were compared to profiles produced using the standard STR PCR kits. The aim of this work was to leverage machine learning to enable real-time adjustments during a PCR, allowing optimisation of cycling conditions towards predefined user goals. A set of parameters was found that yielded similar results to the standard endpoint PCR methodology but was completed 30 min faster. The development of an intelligent system would have significant implications for the various biological disciplines that are reliant on PCR technology. [ABSTRACT FROM AUTHOR]

Short Tandem Repeat (STR) testing via capillary electrophoresis is undoubtedly the most popular forensic genetic testing method. However, its low multiplexing capabilities and limited performance with challenging samples are among the factors pushing scientists towards new technologies. Next-generation sequencing (NGS) methods overcome some of these limitations while also enabling the testing of Single-Nucleotide Polymorphisms (SNPs). Nonetheless, these methods are still under optimization, and their adoption into practice is limited. Among the available kits, Thermo Fisher Scientific (Waltham, MA, USA) produces three Precision ID Panels: GlobalFiler NGS STR, Identity, and Ancestry. A clear review of these kits, providing information useful for the promotion of their use, is, however, lacking. To close the gap, a literature review was performed to investigate the popularity, applications, and performance of these kits. Following the PRISMA guidelines, 89 publications produced since 2015 were identified. China was the most active country in the field, and the Identity Panel was the most researched. All kits appeared robust and useful for low-quality and low-quantity samples, while performance with mixtures varied. The need for more population data was highlighted, as well as further research surrounding variables affecting the quality of the sequencing results. [ABSTRACT FROM AUTHOR]

DNA typing of latent fingerprints is highly desirable to increase chances of individualization. We recovered DNA from Cyanoacrylate (CA) fumed fingerprints and used both GlobalFiler™ and ForenSeq™ DNA Signature Prep kits for DNA typing. For GlobalFiler™, samples were processed using a protocol modified for Low Template (LT)‐DNA samples (half‐volume reactions, 30 cycles) while for ForenSeq™ DNA Signature Prep, samples were processed using a standard protocol and fluorometer‐based library quantitation. We evaluated genotyping success and quality of profiles in terms of completeness, Peak Height Ratio/Allele Coverage Ratio, presence of PCR artifacts and drop‐in alleles. With GlobalFiler™, average autosomal STR (aSTR) profile completeness was 44.4% with 2–20 pg, 54.3% with 22–60 pg, and 95% with 64–250 pg DNA input. CODIS uploadable profiles were obtained in 2/10, 3/11, and 11/12 samples in these ranges. With ForenSeq™ DNA Signature Prep, average aSTR profile completeness was 19.7% with 1–20 pg and 45.2% with 22–47 pg but increased to 78.3% with 68–122 pg and 86.7% with 618–1000 pg DNA input. Uploadable profiles were obtained in 0/12, 4/11, 4/7, and 3/3 samples for these ranges. Results show very high sensitivity using both kits. Half‐volume reactions and 30 cycles had minimal negative effect on Globalfiler™ profile quality, providing support for wider use after validation experiments to routinely improve results from LT samples. A standard protocol for the ForenSeq™ DNA Signature Prep kit was also highly successful with LT DNA obtained from CA‐fumed fingerprints with additional information from isometric STR alleles and other markers. [ABSTRACT FROM AUTHOR]

It is pivotal to avoid cross-sample contamination in forensic genetic laboratories and optimal cleaning protocols for the removal of DNA are essential. A survey was performed, and ten forensic genetic laboratories shared their cleaning protocols in pre-PCR and post-PCR laboratories. The cleaning frequencies on different surface areas were somewhat similar, whereas none of the laboratories used the same cleaning reagents. Therefore, the efficiencies of the cleaning protocol utilised were tested and compared. The results showed that freshly made household bleach and Virkon® removed all amplifiable DNA from the surfaces, whereas DNA AWAY™ and the disinfection reagents ethanol, isopropanol, and ChemGene HLD4L did not. [ABSTRACT FROM AUTHOR]

• DNA mixtures remain one of the most challenging aspects of forensic analysis. • The solution to existing problems may be found in alternative approaches and novel DNA markers. • Polymorphism of the HLA complex makes it a powerful tool to aid with mixture deconvolution. One of the most challenging issues still present in forensic DNA analysis is identifying individuals in samples containing DNA from multiple contributors. The introduction of novel identification markers may be a useful tool in the deconvolution of such DNA mixtures. In this study, we investigated the potential of alleles from the human leukocyte antigen system (HLA) to aid in identifying individuals in complex, multiple-donor DNA samples. The most advantageous characteristic of the HLA complex is its polymorphism in the human genome. A 22-loci multiplex with HLA markers was designed and applied to two-, three-, and four-person DNA mixtures. The results of the conducted experiments demonstrated that the identification of individuals in multiple contributor samples with the help of HLA markers is possible; however, it is clear that the reliability of the method is heavily dependent on the number of unique alleles for each individual in the analysed mixture. In order to compare this novel approach against the already established process, the same group of reference and multiple-contributor samples was analysed with a commonly used set of STR markers. This proof-of-concept research shows the importance of examining alternative solutions to the current deconvolution challenge in forensic DNA profiling. [ABSTRACT FROM AUTHOR]

Abstract Background In the domain of forensic science, the application of kinship identification and mixture deconvolution techniques are of critical importance, providing robust scientific evidence for the resolution of complex cases. Microhaplotypes, as the emerging class of genetic markers, have been widely studied in forensics due to their high polymorphisms and excellent stability. Results and discussion In this research, a novel and high-efficient panel integrating 33 microhaplotype loci along with a sex-determining locus was developed by the next generation sequencing technology. In addition, we also assessed its forensic utility and delved into its capacity for kinship analysis and mixture deconvolution. The average effective number of alleles (Ae) of the 33 microhaplotype loci in the Guizhou Han population was 6.06, and the Ae values of 30 loci were greater than 5. The cumulative power of discrimination and cumulative power of exclusion values of the novel panel in the Guizhou Han population were 1-5.6 × 10− 43 and 1-1.6 × 10− 15, respectively. In the simulated kinship analysis, the panel could effectively distinguish between parent-child, full-sibling, half-sibling, grandfather-grandson, aunt-nephew and unrelated individuals, but uncertainty rates clearly increased when distinguishing between first cousins and unrelated individuals. For the mixtures, the novel panel had demonstrated excellent performance in estimating the number of contributors of mixtures with 1 to 5 contributors in combination with the machine learning methods. Conclusions In summary, we have developed a small and high-efficient panel for forensic genetics, which could provide novel insights into forensic complex kinships testing and mixture deconvolution.

This article seeks to examine the co-productions of security and emerging technologies in the two contexts of forensic genetics and forensic facial identification. These surfacing co-productions, deemed here as 'forensic biosecurity', are evolving rapidly in both theoretical and practical terms. Definitions and conceptualisations of security are contingent and multiple, impacting forensic biological techniques and innovations in both predictable and unpredictable ways. The military, counter-terrorism, law enforcement, immigration, customs, border patrol, mass disasters, cold case reviews, health, defence, private security, and biometric applications are just a few of the many security environments where forensic biological techniques are applied. The continual development of variations in forensic genetics and facial identification renders a futher blurring of traditional evidence with that of intelligence. Drawing in particular from Joly's (in: S. Hilgartner, C. Miller, and R. Hagendijk (eds) Science and democracy: Making knowledge and making power in the biosciences and beyond, Taylor and Francis, London, 2015) work on emerging technologies, forensic biosecurity is analysed from a science and technology studies (STS) perspective. An emerging technology in the initial stages is thought to be highly flexible with the potential impacts on society and criminal justice being possibly difficult to predict. Once the science and/or technology has become entrenched and mainstream, it may be difficult to change. The enthusiasm portrayed by law enforcement and security agencies regarding emerging technologies, shows that it is important to remain somewhat cautious about the proliferation of these techniques. While such science and technologies appear to be effective and innovative in the present, it is difficult to accurately forecast or predict the future consequences of such innovations. [ABSTRACT FROM AUTHOR]

ObjectiveTo establish the identification method of tumor tissue origin based on commonly used STR typing kits.MethodsForenSeqTM DNA Signature Prep kit was used to detect the typing of 27 autosomal STR loci in 55 paired tumor tissue samples （tumor tissue paired with normal tissue of the same individual） and 75 unrelated individual whole blood samples. The genotyping data of full sibling pairs and parent-child pairs of 55 tumor tissues were simulated. The number of total identical alleles （An） and identity by state （IBS） scores were calculated within the paired carcinoma （PC）, the tumor-unrelated individual （UI）, the tumor-simulated full sibling （FS） and the tumor-simulated parent-offspring （PO） groups. The tumor tissue origin identification and prediction models of 8 commonly used STR typing kits were established based on the statistical results obtained above, and an attempt was made to establish a specific model for tumor tissue origin identification. The accuracy, sensitivity and specificity were verified and evaluated using the additional 23 paired tumor tissue samples.Results（1） In any kit, there was no statistically significant difference in the number of loci shared with 0 identical allele （A0） between the PC and PO groups. The number of loci shared with 1 identical allele （A1）, 2 identical alleles （A2）, and IBS scores were statistically significant different between the PC group and the UI, FS and PO groups. （2） The An and IBS scores of different STRs varied in different groups. The A2 levels of 13 STRs （CSF1PO, D12S391, D19S433, D20S482, D2S1338, D3S1358, D4S2408, D7S820, D8S1179, FGA, TH01, TPOX, vWA） in PC group were higher than those of other STR loci. The A2 levels of two STRs （D6S1043, Penta E） in UI group were significantly lower than those of other STR loci. （3） The tumor tissue origin identification and prediction models of 8 commonly used STR typing kits and the identification model of tumor tissue origin with 15 STR loci （15-STRs） were successfully established, with sensitivity of 100%, specificity of 97.56%-99.88%, and accuracy of 97.59%-99.89%. Among them, the 15-STRs model had 100% sensitivity, 99.88% specificity, and 99.89% accuracy, which were higher than those of commonly used commercial kits.ConclusionThis study successfully establishes the tumor tissue origin identification methods with 8 commonly used STR typing kits, which expands the application of tumor tissue origin identification. In addition, the differences of different loci in the identification of tumor tissue origin were compared, and 15 STR loci which were particularly suitable for the identification of tumor tissue origin were selected, providing the data basis for the establishment of tumor origin tracing kits in future.

Skin and hair are the outermost interfaces between the human body and the external environment with many microorganisms distributed. These body surface microorganisms have individual specificity and spatial temporal stability and can be transferred to the surface of other objects through contact, and can be easily found at the crime scene, which helps to construct the connection between the suspect and the crime scene. When the sample is degraded or the DNA quantity is too low to obtain sufficient human DNA evidence, the highly amplified copies of body surface microbiome analysis can be used as an adjunct to human DNA typing without affecting DNA extraction and typing, and provide useful information for narrowing the range of suspects. This paper reviews the forensic characteristics and analytical methods of body surface microbiome, the research progress on the application of body surface microbiome to forensic individual identification, and puts forward the challenges of applying body surface microbiome to forensic practice.

ObjectiveTo establish a rapid， accurate， and sensitive multiplex PCR detection method for the simultaneous identification of the six common edible meats （beef， lamp， chicken， pork， goose， duck）， and to evaluate its application value in meat adulteration identification.MethodsBased on complete mitochondrial genomic sequences of six species in the GenBank database， DNA sequences （cattle： 16S rRNA; sheep： COX-1; chickens： Cytb; pig： COX-1; goose： NADH2; duck： 16S rRNA） with intra-species conservation and inter-species specificity were screened， and species-specific primers were designed to construct a multiplex PCR detection system that can simultaneously detect the meat of six common species. The species specificity， sensitivity and reproducibility of the system were studied, and the simulated mixture sample detection was performed.ResultsThis study successfully constructed a multiplex PCR detection system that can detect the meats of six common species simultaneously. The system was not effective in DNA amplification of non-target species. When the DNA template sizes were 0.062 5-2 ng/μL， the amplified products of all six species could be detected. The duck component was still detected when the mixing ratio of duck and beef was as low as 0.5%.ConclusionThis study constructs and establishes a multiplex PCR detection system with strong specificity， high sensitivity， and good reproducibility. It can accurately identify the components of animal origin in common edible meats and provide a simple and practical method for identifying adulteration of common edible meats and meat products in China.

A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats (Y-STRs) (DYS19, DYS390, DYS391, DYF399S1, DYF404S1, DYS439, DYS444, DYS449, DYS452, DYS456, DYS458, DYS460, DYS481, DYS508, DYS513, DYS516, DYS518, DYS543, DYS547, DYS549, DYS552, DYS557, DYS570, DYS576, DYS612, DYS622, DYS626, DYS627, DYS630, DYS635, and Y-GATA-A10) was developed for investigating the mutation rates of 31 highly mutated Y-STR genes in the Han population of northern China. The mutation rates of the 31 highly mutated Y-STRs were calculated using the father–son pair study method after typing 526 Northern Han father–son pairs with this system. Statistically, 148 Y-STR mutations were found, with mutation rates ranging from 0 (95% confidence interval [CI] 0 to 9.0 × 10−3, DYS622) to 7.0 × 10−2 (95% CI 5.1 × 10−2 to 9.7 × 10−2, DYF399S1). Out of these, 126 father–son pairs were successfully identified, with a distinction rate of 24.0% (95% CI 20.4%–27.9%). The ability of the 31 highly mutated Y-STRs to distinguish closely related males from the same paternal lineage in the Northern Han population is extremely valuable for criminal investigations and other purposes.

Aim: The study is on the emerging role of artificial intelligence in the forensic sciences. After clarifying the basic concepts and a brief historical overview, the possibilities of using AI in various forensic fields are discussed: genetics, pattern recognition, chemistry, toxicology, anthropology, forensic medicine, and scene reconstruction. Methodology: The study synthesises several recently published international papers. Findings: The penetration of the application of artificial intelligence into some fields of science is undoubtedly an ongoing process. Most of the varied forensic fields also cannot avoid this development. Analysing large databases unmanageable with traditional methods, pattern recognition, and machine learning can all be important tools for forensic science. However, an important conclusion is that AI is a supporter of human expert work, not a substitute. Value: In the field of forensic sciences, no such detailed summary article has been published in Hungarian so far. [ABSTRACT FROM AUTHOR]

BackgroundMethodsResultsConclusionsHeterogeneity can impact biomarker identification. Thus, we investigated the somatic copy number alterations (SCNAs) of individual tumor cells in the vitreous humor of a retinoblastoma patient using single-cell whole-genome profiling and explored the genomic concordance among vitreous and aqueous humor, vitreous seeds, and tumor.Aqueous humor (AH), vitreous humor (VH), and tumor biopsy were obtained from an enucleated globe with retinoblastoma and vitreous seeding. Micromanipulation was used to manually isolate 39 live single tumor cells from vitreous seeds harvested from the VH. The SCNA profiles of these individual cells were generated via whole-genome sequencing and analyzed alongside profiles from the tumor mass and cell-free DNA (cfDNA) from AH and VH.Heatmap of VH single-cell SCNA profiles demonstrates heterogeneity among individual vitreous seeds with one clearly dominant subclone (23 of 37 cells). The SCNA profiles from the cells in this subclone demonstrate an average concordance of 98% with cfDNA profiles from acellular AH and VH and with the tumor profile.Our findings reveal some heterogeneity among single-cell SCNA profiles in individual VH seeds. Despite this heterogeneity, the dominant vitreous subclone exhibits extremely (>98%) high concordance with the SCNA profile from tumor and AH, suggesting AH cfDNA is representative of the dominant genomic subclone. This may facilitate tumoral biomarker identification via the AH. This preliminary work supports the potential of applying single-cell technology to VH seeds in retinoblastoma as a platform to study tumor subclones, which may provide insight into the genomic complexity of disease. [ABSTRACT FROM AUTHOR]

Objective: This study assesses the accuracy of the IrisPlex system, a genetic eye color prediction tool for forensic analysis, in the Kazakh population. The study compares previously published genotypes of 515 Kazakh individuals from varied geographical and ethnohistorical contexts with phenotypic data on their eye color, introduced for the first time in this research. Results: The IrisPlex panel's effectiveness in predicting eye color in the Kazakh population was validated. It exhibited slightly lower accuracy than in Western European populations but was higher than in Siberian populations. The sensitivity was notably high for brown-eyed individuals (0.99), but further research is needed for blue and intermediate eye colors. This study establishes IrisPlex as a useful predictive tool in the Kazakh population and provides a basis for future investigations into the genetic basis of phenotypic variations in this diverse population. [ABSTRACT FROM AUTHOR]

This study presents an update of forensic accounting of the numbers and demographics of migrants found deceased in the Evros region of Greece in the years from 2015–22. Compared to data from 2000–14, this update reflects the mounting number of border‐related deaths in the region, as well as the changing demographic trends associated with the migrants who perish crossing the Greek‐Turkish border. Specifically, the paper documents a broadening of locations from which migrants originate, the increasing diversity of migrant death locations, and a shift in the leading causes of death. It contains important forensic accounting of the unique humanitarian crisis occurring along the Greek‐Turkish land border while also providing an additional context for the global migration crisis. The data presented here offer insights into other forensic stakeholders impacted by the global migration crisis, with respect to what factors contribute to and detract from identification rates, and can help stakeholders make informed policy decisions. [ABSTRACT FROM AUTHOR]

Forensic DNA analysis in compromised skeletal remains may pose challenges due to DNA degradation, often resulting in partial or negative autosomal STRs profiles. To address this issue, alternative approaches such as mitochondrial DNA or SNPs typing may be employed; however, they are labour-intensive and costly. Insertion-null alleles (INNULs), short interspersed nuclear elements, have been suggested as a valuable tool for human identification in challenging samples due to their small amplicon size. A commercial kit including 20 INNULs markers along with amelogenin (InnoTyper® 21) has been developed. This study assesses its utility using degraded skeletal remains, comparing the results obtained (the number of detected alleles, RFU values, PHR, and the number of reportable markers) to those obtained using GlobalFiler™. Subsequently, the random match probability of the two profiles for each sample was determined using Familias version 3 to evaluate the power of discrimination of the results obtained from each kit. In every sample, InnoTyper® 21 yielded more alleles, higher RFU values, and a greater number of reportable loci. However, in most cases, both profiles were similarly informative. In conclusion, InnoTyper® 21 serves as a valuable complement to the analysis of challenging samples in cases where a poor or negative profile was obtained. [ABSTRACT FROM AUTHOR]

Objective To obtain the distribution of allele frequency and population genetic data of 23 autosomal STR loci contained in the MicroreaderTM 23HS Plex ID System kit in the Han population of northern China, and explore its application value in forensic medicine. Methods The MicroreaderTM 23HS Plex ID System kit was used to detect the DNA of 548 unrelated samples which from the Han population in northern China. Then, the allele frequencies, heterozygosity (H) in the samples, polymorphism information content (PIC), power of discrimination (DP), and probability of paternity exclusion (PE) were calculated and Hardy-Weinberg equilibrium was tested on each locus based on the genotyping data of 548 samples we collected. The cumulative individual identification ability (CDP) and cumulative non-paternity exclusion rate (CPE) of the MicroreaderTM 23HS Plex ID System were also calculated. Results A total of 260 alleles were detected in 548 unrelated samples from 23 STR loci which conformed to Hardy-Weinberg equilibrium. And the alleles frequencies ranged from 0.000 9 to 0.590 2, H ranged from 0.611 to 0.885, PIC ranged from 0.577 to 0.864, DP ranged from 0.815 to 0.973 (mean DP was 0.922) and PE ranged from 0.089 to 0.406. At the same time, the CDP of MicroreaderTM 23HS Plex ID System was 1- 3.663×10-27 and CPE was 1-2.668×10-16. Conclusion The 23 loci of MicroreaderTM 23HS Plex ID System have a good polymorphism in the north Chinese Han population, and have high application value in population genetics research, forensic personal identification, paternity testing and complex kinship identification. [ABSTRACT FROM AUTHOR]

Sex determination by DNA-based molecular techniques in Sumatran tigers needs to be investigated and developed for forensic and population genetic purposes. The amelogenin gene is a marker commonly used for sex determination. In some species, the difference between the AMELX and AMELY sequences has been reported to be in the intron region. However, the difference between the AMELX and AMELY sequences in the Sumatran tiger is unknown. Therefore, it is necessary to investigate the sequence differences in introns between AMELX and AMELY Sumatran tigers to determine the specific differences between male and female samples. This study aimed to analyse the sequence of nucleotide bases in the Sumatran tiger amelogenin gene introns based on the nucleotide base sequences in the amelogenin gene introns. The method in this research is descriptive, with a molecular observation of the AMELX and AMELY Sumatran tiger sequences. The amplified samples were sequenced, and it was found that the lengths of the AMELX and AMELY Sumatran tiger sequences were 215 bp and 194 bp, respectively, with a 21 bp deletion in the AMELY sequence. [ABSTRACT FROM AUTHOR]

Kinship analysis is a crucial aspect of forensic genetics. This study analyzed 1,222 publications on kinship analysis from 1960 to 2023 using bibliometric analysis techniques, investigating the annual publication and citation patterns, most productive countries, organizations, authors and journals, most cited documents and co-occurrence of keywords. The initial publication in this field occurred in 1960. Since 2007, there has been a significant increase in publications, with over 30 published annually except for 2010. China had the most publications (n = 213, 17.43%), followed by the United States (n = 175, 14.32%) and Germany (n = 89, 7.28%). The United States also had the highest citation count. Sichuan University in China has the largest number of published articles. The University of Leipzig and the University of Cologne in Germany exhibit the highest total citation count and average citation, respectively. Budowle B was the most prolific author and Kayser M was the most cited author. In terms of publications, Forensic Science International-Genetics, Forensic Science International, and International Journal of Legal Medicine were the most prolific journals. Among them, Forensic Science International- Genetics boasted the highest h-index, citation count, and average citation rate. The most frequently cited publication was "Van Oven M, 2009, Hum Mutat", with a total of 1,361 citations. The most frequent co-occurrence keyword included "DNA", "Loci", "Paternity testing", "Population", "Markers", and "Identification", with recent interest focusing on "Kinship analysis", "SNP" and "Inference". The current research is centered around microhaplotypes, forensic genetic genealogy, and massively parallel sequencing. The field advanced with new DNA analysis methods, tools, and genetic markers. Collaborative research among nations, organizations, and authors benefits idea exchange, problem-solving efficiency, and high-quality results. [ABSTRACT FROM AUTHOR]

The white-bellied pangolin is subject to intense trafficking, feeding both local and international trade networks. In order to assess its population genetics and trace its domestic trade, we genotyped 562 pangolins from local to large bushmeat markets in western central Africa. We show that the two lineages described from the study region (WCA and Gab) were overlapping in ranges, with limited introgression in southern Cameroon. There was a lack of genetic differentiation across WCA and a significant signature of isolation-by-distance possibly due to unsuspected dispersal capacities involving a Wahlund effect. We detected a c. 74.1–82.5% decline in the effective population size of WCA during the Middle Holocene. Private allele frequency tracing approach indicated up to 600 km sourcing distance by large urban markets from Cameroon, including Equatorial Guinea. The 20 species-specific microsatellite loci provided individual-level genotyping resolution and should be considered as valuable resources for future forensic applications. Because admixture was detected between lineages, we recommend a multi-locus approach for tracing the pangolin trade. The Yaoundé market was the main hub of the trade in the region, and thus should receive specific monitoring to mitigate pangolins' domestic trafficking. Our study also highlighted the weak implementation of CITES regulations at European borders. [ABSTRACT FROM AUTHOR]

In recent years, the insertion/deletion (InDel) polymorphism has become a preferred genetic marker in forensic genetics due to its low mutation rates and small amplicon sizes. In this study, a 36-InDelplex identification panel, consisting of autosomal 34 InDel loci, 1 Y InDel locus, and amelogenin, was developed, and gene frequencies in the Turkish population were determined. The loci of the InDel panel with global minimum allele frequencies (MAF) ≥ 0.4 were selected from the 1000 Genomes Project Phase 3 data. The amplicon sizes of the loci were designed in the range of 69-252 bp. In the validation study of the developed panel, analysis threshold, dynamic range, sensitivity, stochastic threshold, inhibitor tolerance, and reproducibility parameters were studied by following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. The sensitivity studies indicated that complete and reliable InDel profiles could be obtained with 0.25 ng of DNA. A population study was evaluated using 250 samples from Turkey. The mean observed heterozygosity ratio (Ho) of all loci was 0.48. The combined discrimination power (CPD) is 0.999999999990867 and the combined exclusion probability (CPE) was 0.9930. The population comparison was also made using Turkish and the five major populations from the 1000 Genomes Phase 3 populations' data (Africa, Europe, East Asia, South Asia, and America). In conclusion, the results showed that the 36-InDelplex panel is a reliable, sensitive, and accurate system that is suitable for human identification and population genetics purposes. [ABSTRACT FROM AUTHOR]

Forensic genomics now enables law enforcement agencies to undertake rapid and detailed analysis of suspect samples using a technique known as massively parallel sequencing (MPS), including information such as physical traits, biological ancestry, and medical conditions. This article discusses the implications of MPS and provides ethical analysis, drawing on the concept of joint rights applicable to genomic data, and the concept of collective moral responsibility (understood as joint moral responsibility) that are applicable to law enforcement investigations that utilize genomic data. The widespread and unconstrained use of this technology without appropriate legal protections of individual moral rights and associated accountability mechanisms, could potentially not only involve violations of individual moral rights but also lead to an unacceptable shift in the balance of power between governments and the citizenry. We argue that in light of the rights of victims and the security benefits for society, there is a collective moral responsibility for individuals to submit their DNA to law enforcement and for MPS to be used where other, less invasive techniques are not effective. However, this application should be limited by legislation, including that any data obtained should be directly relevant to the investigation and should be destroyed at the conclusion of the investigation. [ABSTRACT FROM AUTHOR]

DNA quantification is a crucial step in the STR typing workflow for human identification purposes. Given the reaction's nature, qPCR assays may be subjected to the same stochastic effects of traditional PCR for low-input concentrations. The study aims to evaluate the precision of the PowerQuant® (Promega) kit assay measurements and the degree of variability for DNA templates falling below the optimal threshold of the PowerPlex® ESX-17 Fast STR typing kit (Promega). Five three-fold dilutions of the 2800 M control DNA (Promega) were set up. Each dilution (concentrations: 0.05, 0.0167, 0.0055, 0.00185, and 0.000617 ng/µL) was quantified and amplified in four replicates. Variability for qPCR results, STR profile completeness, and EPGs' peak height were evaluated. The qPCR-estimated concentration of casework samples was correlated with profile completeness and peak intensity, to assess the predictive value of qPCR results for the successful STR typing of scarce samples. qPCR was subjected to stochastic effects, of which the degree was inversely proportional to the initial input template. Quantitation results and the STR profile's characteristics were strongly correlated. Due to the intrinsic nature of real casework samples, a qPCR-derived DNA concentration threshold for correctly identifying probative STR profiles may be difficult to establish. Quantitation data may be useful in interpreting and corroborating STR typing results and for clearly illustrating them to the stakeholders. [ABSTRACT FROM AUTHOR]

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Copyright of Journal of Forensic Medicine / Fayixue Zazhi is the property of Journal of Forensic Medicine Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Autosomal polymorphisms (STRs) or Y-Chromosome polymorphisms (Y-STRs) are usually used for the study and deconvolution of mixed DNA profiles in forensic genetics, accompanying data interpretation with biostatistical evaluations (e.g., RMP, RMNE, LR). Sometimes, however, some mixed DNA profiles are so complex that autosomal and Y markers are not sufficient for correct discrimination and identification. In this work is reported a robbery case in which the analysis of the polymorphic markers of the X Chromosome (X-STRs) was applied to the mixed profiles obtained from the traces. This falls outside the classic use of the X-STRs. Indeed, the aim of the authors is to encourage the usage of X-STRs not only in parental relationships, but also in pure forensic cases for interpreting complex mixed DNA profiles, since their application in case resolution could be more decisive than autosomal STRs and Y-STRs. [ABSTRACT FROM AUTHOR]

In paternity testing, when there are Mendelian errors in the alleles between the child and the parents, a slippage mutation, or silent allele may not fully explain the phenomenon. Sometimes, it is attributed to chromosomal abnormalities, such as uniparental disomy (UPD). Here, we present the investigation of two cases of suspected UPD in paternity testing based on short tandem repeat (STR) detection (capillary electrophoresis platform). Case 1 involves a trio, where all genotypes detected on chromosome 6 in the child are homozygous and found in the father. Case 2 is a duo (mother and child), where all genotypes on chromosome 3 in the child are homozygous and not always found in the mother. At the same time, Mendelian error alleles were also observed at specific loci in these two chromosomes. Furthermore, we used the MGIEasy Signature Identification Library Prep Kit for sequencing on the massively parallel sequencing platform, which included common autosomal, X and Y chromosomes, and mitochondrial genetic markers used in forensic practice. The results showed that the genotypes of shared STRs on the two platforms were consistent, and STRs and single nucleotide polymorphisms (SNPs) on these two chromosomes were homozygous. All other genetic markers followed the laws of inheritance. A comprehensive analysis supported the parent–child relationship between the child and the alleged parent, and the observed genetic anomalies can be attributed to UPD. UPD occurrences are rare, and ignoring its presence can lead to erroneous exclusions in paternity testing, particularly when multiple loci on a chromosome exhibit homozygosity. [ABSTRACT FROM AUTHOR]

The goal of the following study is to clarify whether the skeletal remains over 70 years old from missing persons and their alleged relatives shared identical Y-STR loci. Nowadays, advances in ancient DNA extraction techniques and approaches of using multiple different Y-STRs have significantly increased the possibility of obtaining DNA profiles from highly degraded skeletal remains. Given the ages and conditions of the skeletal remains, ancient DNA extraction methods can be used to maximize the probability of DNA recovery. Considering that information about distant relatives is more relevant for long-term missing persons and alleged family members are male, Y-STR loci analysis is considered the most appropriate and informative approach for determining paternal lineage relationship. In this study, Y-STR genotypes obtained from these alleged relatives were identical to each other and to the alleles of missing persons' consensus profiles at more than 22 loci examined, whilst not being found in Y-STR population database from Y-Chromosome STR Haplotype Reference Database. Therefore, Missing Person No.7 and Missing Person No.18 have a patrilineal relationship with reference samples from Family1 and Family2, respectively. In addition, the fact that Y-STR haplotypes obtained from skeletal remains of missing persons and reference samples are not found in the Han Chinese people from East Asian demonstrates its rarity and further supports a paternal lineage relationship amongst them. [ABSTRACT FROM AUTHOR]

Insertion/Deletion (InDel) polymorphisms, characterized by their smaller amplicons, reduced mutation rates, and compatibility with the prevalent capillary electrophoresis (CE) platforms in forensic laboratories, significantly contribute to the advancement and application of genetic analysis. Guizhou province in China serves as an important region for investigating the genetic structure, ethnic group origins, and human evolution. However, DNA data and the sampling of present-day populations are lacking, especially about the InDel markers. Here, we reported data on 47 autosomal InDels from 592 individuals from four populations in Guizhou (Han, Dong, Yi, and Chuanqing). Genotyping was performed with the AGCU InDel 50 kit to evaluate their utility for forensic purposes and to explore the population genetic structure. Our findings showed no significant deviations from Hardy-Weinberg and linkage equilibriums. The combined power of discrimination (CPD) and the combined power of exclusion (CPE) for each population demonstrated that the kit could be applied to forensic individual identification and was an effective supplement for parentage testing. Genetic structure analyses, including principal component analysis, multidimensional scaling, genetic distance calculation, STRUCTURE, and phylogenetic analysis, highlighted that the genetic proximity of the studied populations correlates with linguistic, geographical, and cultural factors. The observed genetic variances within four research populations were less pronounced than those discerned between populations across different regions. Notably, the Guizhou Han, Dong, and Chuanqing populations showed closer genetic affiliations with linguistically similar groups than the Guizhou Yi. These results underscore the potential of InDel markers in forensic science and provide insights into the genetic landscape and human evolution in multi-ethnic regions like Guizhou. Key points InDel markers show promise for forensic individual identification and parentage testing via the AGCU InDel 50 kit. Genetic analysis of Guizhou populations reveals correlations with linguistic, geographical, and cultural factors. Guizhou Han, Dong, and Chuanqing populations showed closer genetic affiliations with linguistically similar groups than the Guizhou Yi. [ABSTRACT FROM AUTHOR]

Ongoing terrorist attacks in the Sahel region call for strengthening the security system by using human DNA identification technology. In this context, public opinion must be considered when establishing solid standards and universal safeguards for one of the most invasive forms of surveillance and profiling. For this purpose, we gathered internet users' opinions in Burkina Faso (a country located in the Sahel region) on the use of DNA technology to support criminal investigations. The results revealed that 91.7% (431) of the 470 participants believed that this technology is currently necessary for the Burkina Faso's criminal justice system. However, the respondents expressed concerns about the custody and management of a national forensic DNA database. In this particular security setting, the public opinion of this study may provide leaders and political policymakers with clues for considering genetic fingerprints and implementing an national forensic DNA database to support criminal investigations in Burkina Faso whilst also considering the ethical implications. [ABSTRACT FROM AUTHOR]

Numerous archaeological sites in Bosnia and Herzegovina represent a historical heritage and testify to the rich cultural, social, and political life of medieval Bosnia. Bobovac, the capital of the Bosnian Kingdom after King Tvrtko I's coronation in 1377, featured a royal complex with a palace, church, and fortification. Recent molecular-genetic research on skeletal remains from Bobovac aims to uncover medieval ancestors' customs and genetic origins. Fifteen well-preserved teeth samples from Bobovac were processed. STR amplification employed PowerPlex® Fusion and Investigator® 24plex QS Kits, with Y-STR profiles generated using the PowerPlex® Y23 System. Fourteen partial autosomal STR profiles were obtained, enabling sex determination and kinship analysis. STR amplification success varied due to ancient DNA degradation, with larger loci showing lower amplification rates. Kinship analysis confirmed appropriate marker selection, demonstrating high reliability for determining close relationships. Integrating aDNA analysis with archaeological research enhances our understanding of historical populations, connecting archaeology and forensic genetics to contribute to the broader narrative of human history. [ABSTRACT FROM AUTHOR]

Autosomal polymorphisms (STRs) or Y-Chromosome polymorphisms (Y-STRs) are usually used for the study and deconvolution of mixed DNA profiles in forensic genetics, accompanying data interpretation with biostatistical evaluations (e.g., RMP, RMNE, LR). Sometimes, however, some mixed DNA profiles are so complex that autosomal and Y markers are not sufficient for correct discrimination and identification. In this work is reported a robbery case in which the analysis of the polymorphic markers of the X Chromosome (X-STRs) was applied to the mixed profiles obtained from the traces. This falls outside the classic use of the X-STRs. Indeed, the aim of the authors is to encourage the usage of X-STRs not only in parental relationships, but also in pure forensic cases for interpreting complex mixed DNA profiles, since their application in case resolution could be more decisive than autosomal STRs and Y-STRs.

Abstract The current study aimed to evaluate Y chromosome haplotypes obtained from 1353 unrelated Iranian males using the AmpFlSTRTM YfilerTM kit; 1353 out of the 1353 identified haplotypes were unique. The haplotype diversity (HD) and discriminating capacity (DC) values were 1.00000 and 0.997, respectively. Analysis of genetic distance was performed using molecular variance (AMOVA) and multidimensional scaling plots (MDS), revealing a statistically significant difference between the study population and previous data reported for other Iranian populations and other neighboring countries. The present findings are likely to be useful for forensic casework analyses and kinship investigations.

Abstract Background Previously, a novel multiplex system of 64 loci was constructed based on capillary electrophoresis platform, including 59 autosomal insertion/deletions (A-InDels), two Y-chromosome InDels, two mini short tandem repeats (miniSTRs), and an Amelogenin gene. The aim of this study is to evaluate the efficiencies of this multiplex system for individual identification, paternity testing and biogeographic ancestry inference in Chinese Hezhou Han (CHH) and Hubei Tujia (CTH) groups, providing valuable insights for forensic anthropology and population genetics research. Results The cumulative values of power of discrimination (CDP) and probability of exclusion (CPE) for the 59 A-InDels and two miniSTRs were 0.99999999999999999999999999754, 0.99999905; and 0.99999999999999999999999999998, 0.99999898 in CTH and CHH groups, respectively. When the likelihood ratio thresholds were set to 1 or 10, more than 95% of the full sibling pairs could be identified from unrelated individual pairs, and the false positive rates were less than 1.2% in both CTH and CHH groups. Biogeographic ancestry inference models based on 35 populations were constructed with three algorithms: random forest, adaptive boosting and extreme gradient boosting, and then 10-fold cross-validation analyses were applied to test these three models with the average accuracies of 86.59%, 84.22% and 87.80%, respectively. In addition, we also investigated the genetic relationships between the two studied groups with 33 reference populations using population statistical methods of F ST, D A, phylogenetic tree, PCA, STRUCTURE and TreeMix analyses. The present results showed that compared to other continental populations, the CTH and CHH groups had closer genetic affinities to East Asian populations. Conclusions This novel multiplex system has high CDP and CPE in CTH and CHH groups, which can be used as a powerful tool for individual identification and paternity testing. According to various genetic analysis methods, the genetic structures of CTH and CHH groups are relatively similar to the reference East Asian populations.