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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.)

Monoamine oxidase (MAO-A) is an enzyme found in the nervous system and plays an important role in the breakdown of monoamine neurotransmitters. This enzyme varies among individuals depending on genetic factors. The monoamine oxidase-A (MAO-A) gene has been studied by various researchers to understand behavioral differences between individuals and evaluate crime propensity. However, serious ethical and legal problems may arise regarding the use of genetic factors alone in the judicial process. In this context, considering environmental factors as well as the MAO-A gene may contribute to the development of a more comprehensive approach. The role of the MAO-A gene in the judgment process has created an area of research that allows us to understand behavioral differences. The MAO-A gene has been associated with various behavioral traits. It has particular effects on aggressive behavior, antisocial behavior, and emotional reactions. In this context, the MAO-A gene may be an important factor in determining how individuals respond to environmental factors and guide their judgment processes. Some studies show that individuals with low MAO-A activity may be prone to antisocial behavior and crime. Thus, the MAO-A gene can be taken into consideration in determining guilt in legal processes. Assessing individuals' criminal propensity based on genetic factors can make the justice system more effective and fair. For example, harsh childhood conditions or traumatic experiences can trigger genetic predispositions and increase criminal propensity. In this case, it is important to take environmental factors into account when evaluating the genetic profile of the individual during the judicial process. Many ethical and legal issues need to be carefully considered on how to integrate the MAO-A gene into the judicial system. Therefore, research on the usability of the MAO-A gene in the judicial process should be continued. [ABSTRACT FROM AUTHOR]

Abstract Background Short Tandem Repeats (STRs) are segments of DNA composed of a short sequence of nucleotides that repeat consecutively. These repeating sequences exhibit distinct lengths and nucleotide sequences among individuals, showcasing high variability and uniqueness. The STR profile remains consistent across all cells in an individual’s body. Nonetheless, changes in the STR profile have been documented in cancerous tissues. This scoping review aimed to investigate the occurrence and pattern of forensic STR markers alterations in cancerous tissues. We conducted a scoping review of the English-language publications published between 2002 and 2022 in the PubMed, Science Direct, and Scopus databases and a manual search of reference lists from reviewed papers. The review was carried out in compliance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews. Results Our search resulted in a total of 1,065 articles associating forensic STR studies with cancerous tissues. A total of 18 of these studies met our inclusion criteria. The D18S51 marker was most often found to be altered when associated with cancers such as breast, colorectal, gastric, gynaecology, and lung cancers. Following with that, FGA, VWA, D19S433, and D13S317 markers could as well be seen to have allelic alteration in cancerous tissues. Four other STR markers (TPOX, D7S820, D2S1338, and Penta D) could be potentially represented as stable STR markers in cancerous tissues. Conclusions According to our review, colorectal cancer tissue has the highest level of genomic instability compared to that of other cancer types. In summary, the genetic instability caused by faulty DNA mismatch repair processes in human carcinomas can pose challenges for forensic genotyping and DNA profile matching.

Background: Short Tandem Repeats (STRs) are segments of DNA composed of a short sequence of nucleotides that repeat consecutively. These repeating sequences exhibit distinct lengths and nucleotide sequences among individuals, showcasing high variability and uniqueness. The STR profile remains consistent across all cells in an individual's body. Nonetheless, changes in the STR profile have been documented in cancerous tissues. This scoping review aimed to investigate the occurrence and pattern of forensic STR markers alterations in cancerous tissues. We conducted a scoping review of the English-language publications published between 2002 and 2022 in the PubMed, Science Direct, and Scopus databases and a manual search of reference lists from reviewed papers. The review was carried out in compliance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews. Results: Our search resulted in a total of 1,065 articles associating forensic STR studies with cancerous tissues. A total of 18 of these studies met our inclusion criteria. The D18S51 marker was most often found to be altered when associated with cancers such as breast, colorectal, gastric, gynaecology, and lung cancers. Following with that, FGA, VWA, D19S433, and D13S317 markers could as well be seen to have allelic alteration in cancerous tissues. Four other STR markers (TPOX, D7S820, D2S1338, and Penta D) could be potentially represented as stable STR markers in cancerous tissues. Conclusions: According to our review, colorectal cancer tissue has the highest level of genomic instability compared to that of other cancer types. In summary, the genetic instability caused by faulty DNA mismatch repair processes in human carcinomas can pose challenges for forensic genotyping and DNA profile matching. [ABSTRACT FROM AUTHOR]

Objective To evaluate the forensic application value of an age estimation model based on DNA methylation in eastern Chinese Han population， and to provide a theoretical basis for exploring age estimation models suitable for different detection platforms. Methods According to the 6 age-related methylation sites in the published blood DNA methylation age estimation models of Chinese Han population， the DNA methylation level of 48 samples was detected by pyrosequencing and next-generation sequencing （NGS）. After submitting DNA methylation levels to the age estimation model， the DNA methylation ages were predicted and compared with their real ages. Results The 6 DNA methylation sites in both detection techniques were age-related， with an R2 of 0.85 and a median absolute deviation （MAD） of 4.81 years when using pyrosequencing； with an R2 of 0.84 and MAD of 4.41 years when using NGS. Conclusion The blood DNA methylation age estimation model can be used under pyrosequencing and multi-purpose regional methylation enrichment sequencing technology based on NGS and it can accurately estimate the age.

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.)

The use of recovered DNA ingested by necrophagous or hematophagous insects has increased in forensic sciences, mainly with representatives of flies. However, some beetles are also important for medico-legal forensic entomology because they feed on carcasses until advanced decomposition. This study evaluated whether the Neotropical carrion beetle Oxelytrum discicolle (Silphidae) has the potential for the detection of exogenous DNA into the gut. The whole gut or the gut contents were extracted from O. discicolle larvae and adult previously fed on pig carcass. The pig DNA recovery rate was 33.3% in larvae and 25% in adults, indicating that the carrion beetle's gut may be useful for DNA identification of ingested food. Samples with the whole gut or only gut contents showed the same DNA recovery rate. Exogenous DNA from the whole gut was recovered from samples stored in ethanol at -20 ºC for 11 days, showing that samples of O. discicolle can be stored in the forensic laboratory without loss in DNA recovery rate. [ABSTRACT FROM AUTHOR]

Objective To investigate the genetic polymorphisms of 20 autosomal STR loci in Miao population from Wenshan and Honghe regions, and to explore their forensic values. Methods DNA was extracted with the Chelex-100 method. A total of 20 STR loci were amplified from 2 209 healthy unrelated individuals of the Miao population from Wenshan and Honghe regions, Yunnan Province using the PowerPlex®21 System kit. The PCR products were separated by capillary electrophoresis on an ABI 3130Genetic Analyzer, and alleles were genotyped by GeneMapper ID (Version 3.2) software. Forensic parameters were calculated by Modified-Powerstats software, and the Hardy-Weinberg equilibrium (HWE) test was performed. The Fst values and Nei's genetic distance were calculated by Arlequin and Phylip software, respectively. Multidimensional scaling (MDS) analysis was performed with SPSS v24.0 statistical software and the neighbor-joining (N-J) phylogenetic tree was constructed using the MEGA v6.0 software. Results A total of 265 alleles and 1 080 genotypes were observed. The allele frequency of the 20 STRs ranged from 0.000 2 to 0.5718. No deviation from Hardy-Weinberg equilibrium (P > 0.05/20 = 0.002 5) was observed. The cumulative discrimination power (CDP) and cumulative probability of exclusion (CPE) with 20 STRs were 0.999 999 999 999 999 999 999 932 674 151 and 0.999 999 935 545 335, respectively. Population comparison showed that Wenshan and Honghe Miao nationality was genetically closer to Yunnan Vietnamese. Conclusion These 23 STR loci are highly genetic polymorphic and informative in the Miao population from Wenshan and Honghe regions, Yunnan Province, which can be used for forensic identification and population genetic research. [ABSTRACT FROM AUTHOR]

Background: Although the genetic information of STRs has been established over the entire world, the different characteristics between populations influenced the STRs information. FBI's guideline recommended to expand additional number of STRs loci to increase power of discrimination and exclusion. Unfortunately, the current data of STRs in northern Thai population have not fully covered additional loci. The aim of this study is to obtain accurate allele frequencies of STRs among northern Thai population. Methods: The genetic profiles of unrelated individuals were characterized by Investigator 24 plex Go kit. Allele frequencies and forensic statistical parameters were calculated within GenoProof®3and Arlequin ver 3.5.2.2. Results: The SE33 and TH01 loci represented largest and lowest number of different alleles, respectively. There was no significant deviation from the Hardy-Weinberg equilibrium (HWE) after Bonferroni correction in all loci (p=0.002). The SE33 locus showed the greatest PD and PE, whereas the TPOX represented the lowest PD and PE. The studied population (northern Thai) appear to be most closely related to previously reported populations containing of Chinese, Japanese, and Vietnamese based on allele frequency. Conclusion: Our results recommended that current autosomal STRs data extended the application of STRs typing in parentage analyses and human identification among the localized population in northern region of Thailand due to highly informative polymorphic data. [ABSTRACT FROM AUTHOR]

Two major challenges in daily and routinely forensic genetics test are samples with low or very low quantities of DNA and high cost of processing. To overcome these obstacles, a reduction in reaction volume to half would offer a substantial benefit, but even so it should provide complete genetic profiles without conceding the quality of the results. The aim of this study is to test the robustness of two commercially available kits, GlobalFiler™ IQC PCR Amplification Kit (GF-IQC) and PowerPlex® Fusion 6C System (P-6C), with half volume reaction in accordance with SGWDAM guidelines. GF-IQC showed minimum and stochastic threshold of 45 and 610 RFU, while P-6C demonstrated 60 and 670 RFU of those values respectively. The P-6C can tolerate to many inhibitors including melanin, hematin, and humic acid. Both kits showed the same performance on case work profiling and the sensitivity of allele detection of P-6C was not significantly different from that of GF-IQC (p=0.144). The results of this study demonstrated that GF-IQC and P-6C with half volume reaction can produce good quality profiles and could be applied for forensic DNA examination. [ABSTRACT FROM AUTHOR]

Y-STR, DIP-STR, and SNP-STR are useful alternatives for testing the low quantity of DNA in solving the challenges in interpreting forensic genetic profiling. In an unbalanced mixed DNA, partial DNA is often not detected due to the effect of masking by the dominant DNA. Therefore, in such cases interpretation of the results is limited. Furthermore, profiling of these specimens cannot be performed using conventional forensic genetic methods. Biomarkers including Y-STR, DIP-STR and SNP-STR perform well in detecting DNA contributes in the mixed sample. In the present research, the performance of each is evaluated separately.

Background: The investigation of Y-short tandem repeats (Y-STRs) has been widely performed in forensic caseworks. Due to variation between populations, understanding of genetic information within individual a population could provide the database and scientifically reliable results. This study was to investigate allele and haplotype frequencies of Y-STRs among localized people who lived in northern Thailand. Methods: A retrospective descriptive study was conducted by gathering medical reports of Y-STRs typing. The allele frequency and gene diversity as well as haplotype frequency and diversity were calculated. Pairwise genetic distance (Rst) was also calculated based on haplotype pattern by using AMOVA and Multidimensional Scaling (MDS) tools. Results: The result showed that DYS389II, DYS439, and DYS392 represented the highest number of allele patterns. The highest and lowest allele frequency was found to be allele 14 of DYS437 and allele 13 of DYS437, respectively. The highest and lowest gene diversity was observed in DYS389II and DYS437, respectively. One-hundred and sixty different haplotypes were defined where 144 carried a unique haplotype and 16 carried a replicate haplotype. A significant Rst value was obtained between the studied population and central Thai population. Conclusion: This study provided genetic database of Y-STRs among localized population in northern region of Thailand. The genetic structure of our subjects also represented the significant close relationship with some other populations in Southeast Asia. [ABSTRACT FROM AUTHOR]

Objective To establish a species identification system based on DNA genetic markers for plant evidence. Methods Two hundred common plants in Shanghai were collected and identified by morphological characteristics. The primers of gene segments rbcL, matK, and ITS were designed and amplified. The PCR amplicon was detected by agarose gel electrophoresis. After the sequencing, the universality and the identification capacity of the three markers were evaluated. Results The success rate of amplification was in order of rbcL （99.5%） > matK （92.5%） > ITS （86.0%）. The identification capacity of the combination of rbcL and matK was better than that of rbcL or matK, by which most plant species could be identified to the genus or higher. ITS was not suitable to be a unique marker because of its unstable result, but it still could be a powerful supplement. The identification capacity of the combination of rbcL, matK and ITS was higher than that of rbcL and matK, by which most plant species could be identified to the genus or lower. Conclusion The identification system with the combination of rbcL, matK and ITS as markers has excellent universality for plant evidence, which can distinguish most plant species to the genus or lower.

Copyright of Turkiye Klinikleri Journal of Forensic Medicine & Forensic Sciences / Türkiye Klinikleri Adli Tıp ve Adli Bilimler Dergisi is the property of Turkiye Klinikleri 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 Turkiye Klinikleri Journal of Forensic Medicine & Forensic Sciences / Türkiye Klinikleri Adli Tıp ve Adli Bilimler Dergisi is the property of Turkiye Klinikleri 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.)

Chimerism is the presence of two or more genetically distinct cell lines in an organism. The presence of blood Chimerism in human twins is rare and was first described by Dunsford in 1953 [2] who discovered a mixture of two blood types in a donor. The only way some chimeras can be distinguished from non-chimeras is through DNA testing. In 2017 in the context of a sex assault, a blood sample came to our Forensic Genetic Laboratory. When analyzed with STRs and the results were confirmed, the obtained profile surprised us. A mixed profile was observed, with up to 4 alleles per marker and imbalances. After evaluating and confirming that it wasn't a contamination, this aroused our interest in deepening the study. We were able to find out that the individual to whom the sample belonged had a twin brother. After obtaining the consent of both individuals more samples were taken for further studies. Blood, hair and nails of both were analyzed with different autosomal, Y and X chromosome markers. In hair samples we obtained single male profiles, but in blood samples these profiles were mixed together in different proportions. Those alleles present in the hair samples of one subject where the minor contributor in the blood profile of his sibling and vice versa. We present a brief summary of the case context and explain the results of DNA markers that we used. [ABSTRACT FROM AUTHOR]

Introduction: Human eye colour as a physical trait is based on the developmental biology and genetic determinants of the structure known as the iris, which is part of the uveal tract of the eye. Prediction of human visible characteristics (EVCs) by genotyping informative SNPs in DNA as biological witness opens up a new avenue in the forensic genetic. Variation of iris color rely on the amounts of eumelanine and pheomelanin. The aim of this research was to determine and evaluate the frequency and the association of rs12913832 with prediction of human eye color in 53 volunteer of Iranian population samples. Methods: A selection of human body blood samples were collected from donors with informed consent in Clinic Ophthalmology of Baqiyatallah hospital. DNA was extracted from the samples using RGDE procedure. PCR primers for rs12913832 were designed to give amplicon sizes up to 189 bp and Single base extensions (SBE) were done by applying the SNaPshot Multiplex kit in 6 ;mul reaction volumes. The results were analyzed with the SPSS 22.0 software package. Results: The frequency of eye color were achieved for brown 34%, blue 17% and intermediate colors 49%, respectively. The genotype frequencies of T/T, C/T and C/C in our population were 4.26 %, 8.35 % and 7.37%, respectively. The statistical analysis revealed the two genotypes including T/T and C/C had a significant associate with dark brown eyes and bright blue eyes, respectively. The sensitivity and specificity of our method were determined 100% and 56.25%,respectively. Conclusion: Our results demonstrated that rs12913832 C>T polymorphism is associated with blue iris color in Iranian population. However, assessment SNP markers by using SNaPshot is a key tool for tracing unknown persons to get primarily information about genotypic and phenotypic characteristics.

Objectives: To evaluate the forensic application value of an age estimation model based on DNA methylation in eastern Chinese Han population, and to provide a theoretical basis for exploring age estimation models suitable for different detection platforms., Methods: According to the 6 age-related methylation sites in the published blood DNA methylation age estimation models of Chinese Han population, the DNA methylation level of 48 samples was detected by pyrosequencing and next-generation sequencing (NGS). After submitting DNA methylation levels to the age estimation model, the DNA methylation ages were predicted and compared with their real ages., Results: The 6 DNA methylation sites in both detection techniques were age-related, with an R 2 of 0.85 and a median absolute deviation (MAD) of 4.81 years when using pyrosequencing；with an R 2 of 0.84 and MAD of 4.41 years when using NGS., Conclusions: The blood DNA methylation age estimation model can be used under pyrosequencing and multi-purpose regional methylation enrichment sequencing technology based on NGS and it can accurately estimate the age.

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.)

Copyright of Revista Jurídica (0103-3506) is the property of Revista Juridica 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 Archivos de Criminología, Criminalística y Seguridad Privada is the property of Sociedad Mexicana de Criminologia Capitulo Nuevo Leon, A.C. 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.)

• CPD and CPE of 90 A-SNPs in Kyrgyz group were 0.999999999999999999999999999999999951 and 0.999999748. • Effectiveness of 89 A-SNPs was relatively high in the European populations, but relatively low in the African populations. • Kyrgyz group had mixed genetic components of East Asian and European populations. • Kyrgyz group shared Y-STR haplotypes with Central Asia populations in haplogroups C and R1a1. To assess the effect of population genetic polymorphism on forensic research, we investigated the genetic polymorphisms of Chinese Kyrgyz group (n = 98) and evaluated forensic application values in Chinese Kyrgyz group and other 26 reference populations at 90 autosomal SNPs, and then combined with 34 SNPs and 37 STRs on Y chromosome to reveal the genetic background of Kyrgyz group in autosomal and Y-chromosomal inheritances, respectively. The 90 autosomal SNPs and 34 Y-chromosomal SNPs were sequenced base on next generation sequencing technology, and 37 Y-chromosomal STRs were analyzed by capillary electrophoresis platform. The results showed that cumulative power of discrimination and cumulative power of exclusion of 90 autosomal SNPs in the panel met the application need of forensic genetics in Kyrgyz group. The forensic effectivenesses of the panel were high in all 27 populations, although there were genetic differences among these populations. The forensic effectiveness of the panel was relatively higher in the European populations, but relatively lower in the African populations. The population genetic results indicated that the Kyrgyz group had the relatively closer genetic relationships with the reference East Asian populations at autosomal SNPs, and there were gene exchanges between the Kyrgyz group and East Asian, European populations based on the analytical results of autosomal SNPs, Y-chromosomal SNPs and STRs. [ABSTRACT FROM AUTHOR]

Y-STR, DIP-STR, and SNP-STR are useful alternatives for testing the low quantity of DNA in solving the challenges in interpreting forensic genetic profiling. In an unbalanced mixed DNA, partial DNA is often not detected due to the effect of masking by the dominant DNA. Therefore, in such cases interpretation of the results is limited. Furthermore, profiling of these specimens cannot be performed using conventional forensic genetic methods. Biomarkers including Y-STR, DIP-STR and SNP-STR perform well in detecting DNA contributes in the mixed sample. In the present research, the performance of each is evaluated separately., Competing Interests: Conflict of interest The authors declare that there is no conflict of interests., (Copyright © 2022 Forouzesh et al. Published by Tehran University of Medical Sciences.)

Abstract: The distribution of allele frequencies and haplotypes for 12 STRs loci, (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS437, DYS438 and DYS439) on the Y-chromosome from two Venezuelan populations were determined in 173 DNA samples of unrelated males living in Caracas (62) and Maracaibo (111). Some parameters of forensic importance were calculated. AMOVA and genetic distances between these populations were estimated. The results confirmed Y-STR genotypes as useful markers for forensic genetics analysis. [Copyright &y& Elsevier]

Abstract: The analysis of X-STR polymorphisms has received the attention of several researchers, mainly due to its applicability to the investigation of complex kinship cases. Although many X-STRs have been validated for forensic use, little is known about the variations of these polymorphisms in different populations of the world. The present work describes a new multiplex system that allows the simultaneous analysis of 11 X-STR markers, for use both in paternity determination and more complex forensic cases. The loci investigated include DXS9895, DXS7132, DXS6800, DXS9898, DXS6789, DXS7133, DXS7130, HPRTB, GATA31E08, DXS7423, and DXS10011, which together afford a power of discrimination in the order of 0.999999. In addition, this work presents the genotyping results obtained for a sample of 324 individuals (182 males and 142 females) from the admixed population of Belém, Pará, located in the Brazilian Amazon Region. [Copyright &y& Elsevier]

The order of Acipenseriformes (sturgeon and paddlefishes) contains the economic most valuable species in world trade: the producers of black caviar. Mainly because of their high economic value, sturgeon and paddlefishes were and are the goal of many conservation programs worldwide. In this review, I present some of the main conclusions that can be drawn from previous conservation efforts. My review is divided into two parts. The first part deals with species identification methods, which are necessary for international trade control (Convention on International Trade in Endangered Species of Wild Fauna and Flora). Considering the outcome of all previous forensic studies, I conclude, firstly, it is necessary to use large sample sizes to avoid misinterpretation of possible diagnostic substitutions, and, secondly, the combination of both DNA types (mitochondrial and nuclear markers) is recommended for correct species identification. The second part deals with the influence of restocking/release programs on native populations. The outcome of previous stocking efforts indicates that, in most cases, stocking with nonnative specimens is economically nonsense because most translocation efforts failed. In addition, in cases where such efforts were successful, they influenced negatively the genotypic structure (inbreeding and outbreeding depressions) of native populations. In fact, nonnative stocking does jeopardize adaptation and blurs the genetic differences used to discriminate populations. Furthermore, if it is necessary to release individuals to avoid extinction, released specimens should be as young as possible (homing fidelity). [ABSTRACT FROM AUTHOR]

Abstract: STR multiplex is a practical and simple method to obtain large amounts of important information in forensic and population genetic studies. The present work describes a new multiplex system that allows the simultaneous analysis of 4 X-STR markers, namely DXS9902, DXS6800, DXS6799 and DXS7132, as the tool of approach for X-STR studies. In addition, this work presents the genotyping results obtained for a sample 400 individuals (200 males and 200 females) from Beijing Han ethnic group in China. [Copyright &y& Elsevier]

• Full mitochondrial genome sequences were generated for 43 Romanian samples by MPS. • MPS data were analyzed using the plug-in Variant Caller and the mtDNA-Server tool. • We have identified 32 real polymorphisms not detected by both analysis tools used. • The full genome data allowed higher haplotypes discrimination and haplogroups resolution. The efficiency of MPS in forensic mtDNA analysis has been thoroughly proven, although a reliable and well established data evaluation still remains a critical point. Numerous bioinformatics tools have been developed, but most of them require specific operating systems and high costs, while free open-source programs with user-friendly interfaces are few. In this study, 43 full mtGenomes were sequenced using the Ion Personal Genome Machine™ (PGM™) System and analyzed utilizing the plug-in Variant Caller (TVC) of the Ion Torrent Software Suite and the mtDNA-Server (mDS), a free web-based mitochondrial analysis tool for MPS data. The outcomes of these two different analysis tools were compared to variants noted after manual inspection of the aligned reads performed using Integrative Genomics Viewer (IGV). The comparison highlighted the presence of thirty-nine discordant variant calls, which were resolved by Sanger sequencing that confirmed the presence of all variants, except for 7 deletions. The combined adoption of IGV and Sanger type sequencing confirmatory steps, in addition of TVC and mDS analysis, resulted in a more accurate variants assignment with the detection of 32 additional true polymorphisms, which were noted in the final dataset. Regarding the heteroplasmy issue, out of a total of thirty heteroplasmic variants, twenty-eight were detected by the TVC, while the mDS detected twenty-two. Overall, none of the used bioinformatics tools were the perfect choice and a secondary analysis with an expert's opinion in complete mtGenome MPS data evaluation is still required in forensic genetic analysis. [ABSTRACT FROM AUTHOR]

Abstract: Autosomal STR polymorphisms at 2 loci (D12S392 and D17S906) are presented. Samples from current paternity analysis (n =909) were analysed. The observed heterozygosities were 0.878 (D12S392) and 0.915 (D17S906). No significant deviation from Hardy–Weinberg equilibrium was observed. 17 different alleles were observed at D12S392 whereas a total of 57 different alleles were observed at D17S906. The repeat numbers ranged from 15 to 27 at D12S392. For D17S906 the allele sizes ranged from 331 to 441 bases. Sequence variation at both loci is presented as well as frequency databases and other relevant forensic genetic parameters. [Copyright &y& Elsevier]