MitoVariome: a variome database of human mitochondrial DNA

Background: Mitochondrial sequence variation provides critical information for studying human evolution and variation. Mitochondrial DNA provides information on the origin of humans, and plays a substantial role in forensics, degenerative diseases, cancers, and aging process. Typically, human mitochondrial DNA has various features such as HVSI, HVSII, single-nucleotide polymorphism (SNP), restriction enzyme sites, and short tandem repeat (STR). Results: We present a variome database (MitoVariome) of human mitochondrial DNA sequences. Queries against MitoVariome can be made using accession numbers or haplogroup/continent. Query results are presented not only in text but also in HTML tables to report extensive mitochondrial sequence variation information. The variation information includes repeat pattern, restriction enzyme site polymorphism, short tandem repeat, disease information as well as single nucleotide polymorphism. It also provides a graphical interface as Gbrowse displaying all variations at a glance. The web interface also provides the tool for assigning haplogroup based on the haplogroup-diagnostic system with complete human mitochondrial SNP position list and for retrieving sequences that users query against by using accession numbers. Conclusion: MitoVariome is a freely accessible web application and database that enables human mitochondrial genome researchers to study genetic variation in mitochondrial genome with textual and graphical views accompanied by assignment function of haplogrouping if users submit their own data. Hence, the MitoVariome containing many kinds of variation features in the human mitochondrial genome will be useful for understanding mitochondrial variations of each individual, haplogroup, or geographical location to elucidate the history of human evolutionclose81

Recent Trends in Dental Forensics

Teeth are the most robust tissues of the human body, and usually most resistant to post-mortemdecay. The dental patterns tend to be highly individualized and are therefore very useful for identification ifappropriate records are available for comparison. For these reasons, dental evidence remains important inforensic cases after accidents, crime or prolonged exposure to the environment. Routine antemortem dentalrecords are applied for storage and retrieval of such information but unfortunately not always available. Thesame is true for DNA typing, which is an increasingly useful approach with decreasing cost of analysis. Thispaper aims to review some of the new developments, particularly in biochemical forensic tools and methodsthat can be applied also for dental samples. No new tool will solve all cases, and it remains necessary to applyan array of techniques for post-mortem identification. It is also very important to use established protocols forefficiency and quality assurance in forensic investigation. Some challenges are highlighted for forensicapplication in Indonesia

Mitochondrial DNA in human identification: a review

Mitochondrial DNA (mtDNA) presents several characteristics useful for forensic studies, especially related to the lack of recombination, to a high copy number, and to matrilineal inheritance. mtDNA typing based on sequences of the control region or full genomic sequences analysis is used to analyze a variety of forensic samples such as old bones, teeth and hair, as well as other biological samples where the DNA content is low. Evaluation and reporting of the results requires careful consideration of biological issues as well as other issues such as nomenclature and reference population databases. In this work we review mitochondrial DNA profiling methods used for human identification and present their use in the main cases of humanidentification focusing on the most relevant issues for forensics.info:eu-repo/semantics/publishedVersio

Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data

In anthropological, medical, and forensic studies, the nonrecombinant region of the human Y chromosome (NRY) enables accurate reconstruction of pedigree relationships and retrieval of ancestral information. Using high-throughput sequencing (HTS) data, we present a benchmarking analysis of command-line tools for NRY haplogroup classification. The evaluation was performed using paired Illumina data from whole-genome sequencing (WGS) and whole-exome sequencing (WES) experiments from 50 unrelated donors. Additionally, as a validation, we also used paired WGS/WES datasets of 54 individuals from the 1000 Genomes Project. Finally, we evaluated the tools on data from third-generation HTS obtained from a subset of donors and one reference sample. Our results show that WES, despite typically offering less genealogical resolution than WGS, is an effective method for determining the NRY haplogroup. Y-LineageTracker and Yleaf showed the highest accuracy for WGS data, classifying precisely 98% and 96% of the samples, respectively. Yleaf outperforms all benchmarked tools in the WES data, classifying approximately 90% of the samples. Yleaf, Y-LineageTracker, and pathPhynder can correctly classify most samples (88%) sequenced with third-generation HTS. As a result, Yleaf provides the best performance for applications that use WGS and WES. Overall, our study offers researchers with a guide that allows them to select the most appropriate tool to analyze the NRY region using both second- and third-generation HTS data

From forensics to clinical research: expanding the variant calling pipeline for the precision ID mtDNA whole genome panel

Despite a multitude of methods for the sample preparation, sequencing, and data analysis of mitochondrial DNA (mtDNA), the demand for innovation remains, particularly in comparison with nuclear DNA (nDNA) research. The Applied Biosystems™ Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific, USA) is an innovative library preparation kit suitable for degraded samples and low DNA input. However, its bioinformatic processing occurs in the enterprise Ion Torrent Suite™ Software (TSS), yielding BAM files aligned to an unorthodox version of the revised Cambridge Reference Sequence (rCRS), with a heteroplasmy threshold level of 10%. Here, we present an alternative customizable pipeline, the PrecisionCallerPipeline (PCP), for processing samples with the correct rCRS output after Ion Torrent sequencing with the Precision ID library kit. Using 18 samples (3 original samples and 15 mixtures) derived from the 1000 Genomes Project, we achieved overall improved performance metrics in comparison with the proprietary TSS, with optimal performance at a 2.5% heteroplasmy threshold. We further validated our findings with 50 samples from an ongoing independent cohort of stroke patients, with PCP finding 98.31% of TSS’s variants (TSS found 57.92% of PCP’s variants), with a significant correlation between the variant levels of variants found with both pipelines

Ancient DNA analysis reveals temporal and geographical patterns of mitochondrial diversity in pre-Hispanic populations from Central Argentina

Objectives: The study of the ancient populations of Central Argentina has a crucial importance for our understanding of the evolutionary processes in the Southern Cone of South America, given its geographic position as a crossroads. Therefore, the aim of this study is to evaluate the temporal and geographical patterns of genetic variation among the groups that inhabited the current territory of Córdoba Province during the Middle and Late Holocene. Methods: We analyzed the mitochondrial haplogroups of 74 individuals and 46 Hypervariable Region I (HVR-I) sequences, both novel and previously reported, from archeological populations of the eastern Plains and western Sierras regions of the province of Córdoba. The HVR-I sequences were also compared with other ancient groups from Argentina and with present-day populations from Central Argentina by pairwise distance analysis and identification of shared haplotypes. Results: Significant differences in haplogroup and haplotype distributions between the two geographical regions were found. Sierras showed genetic affinities with certain ancient populations of Northwestern Argentina, while Plains resembled its neighbors from Santiago del Estero Province and the Pampas region. We did not observe genetic differences among the pre 1200 and post 1200 yBP temporal subsets of individuals defined by the emergence of horticulture, considering both geographical samples jointly. Conclusions: The observed patterns of geographical heterogeneity could indicate the existence of biologically distinct populations inhabiting the mountainous region and the eastern plains of Córdoba Province in pre-Hispanic times. Maternal lineages analyses support a scenario of local evolution with great temporal depth in Central Argentina, with continuity until the present.Fil: Nores, Rodrigo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Antropología de Córdoba. Universidad Nacional de Córdoba. Facultad de Filosofía y Humanidades. Instituto de Antropología de Córdoba; ArgentinaFil: Tavella, María Pía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Antropología de Córdoba. Universidad Nacional de Córdoba. Facultad de Filosofía y Humanidades. Instituto de Antropología de Córdoba; ArgentinaFil: Fabra, Mariana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Antropología de Córdoba. Universidad Nacional de Córdoba. Facultad de Filosofía y Humanidades. Instituto de Antropología de Córdoba; ArgentinaFil: Demarchi, Dario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Antropología de Córdoba. Universidad Nacional de Córdoba. Facultad de Filosofía y Humanidades. Instituto de Antropología de Córdoba; Argentin

Genetic Analysis of Ancient Human Remains from the Early Bronze Age Cultures of the North Pontic Steppe Region

During the Neolithic transition into the Early Bronze Age (EBA) in the North Pontic steppe region (NPR), people, cultures, and technologies were rapidly changing. Farming was on the decline and Indo-European languages were spreading through the region along with pastoralist way of life. In this study we used mitochondrial DNA (mtDNA) haplotyping to study the people living in the NPR during these times. Additionally, we used next-generation sequencing (NGS) technologies in attempts to develop novel methods to assess the degradation of ancient DNA (aDNA). We extracted ancient mtDNA from remains of 11 individuals belonging to late Neolithic and EBA populations of the NPR. Using single nucleotide polymorphisms (SNPs) as markers, we established mtDNA haplogroups of nine out of 11 individuals. Using our data, as well as mtDNA haplogroup frequencies from literature, we visualized genetic relationships among various Eurasian populations spanning the Mesolithic through EBA using principal component analysis (PCA). We then examined the changes in haplogroup frequencies through time using an FST analysis, comparing representatives of the Yamna (Pit Grave) and Catacomb groups, the main pastoralist EBA cultures of the NPR, and modern European populations. We found genetic evidence through mtDNA haplogroup frequencies and PCA linking the Catacomb people to hunter-gatherer populations from northern Europe and Russia. On the other hand, data on mtDNA haplogroup frequencies of individuals from the Yamna culture associated them with farming and pastoralist type populations from southwest and central Europe. An FST analysis of mtDNA haplogroup frequency distribution showed that the Yamna are most closely related to the Boyko group of ethnic Carpathian highlanders than to other modern European groups used in the study. The Catacomb people appeared genetically different from all other population groups in the FST analysis, including the Yamna group, challenging the current understanding of the relationship between the Yamna and Catacomb populations. Further statistical analysis using an exact test of population differentiation confirmed genetic differences in mtDNA haplogroup frequencies between Yamna and Catacomb. The exact test also revealed a lack of genetic differentiation between the Yamna and the modern Ukrainian population, as well as Lemko, another group of Carpathian highlanders. Data gathered from the NGS aspect of the study was not informative in its original design. Modifications to the methods and techniques outlined in our NGS assay could provide useful information in building a more comprehensive understanding of DNA damage through time