Full mt-Genome Sequencing with mitochondrail Tiling Path Primers

Full mt-Genome Sequencing with mitochondrail Tiling Path Primers using the Ion Torrent PGM

Strobl,C.; Lagacé,R.; Chang,J.; Parson,W.

Sequencing analysis of mitochondrial DNA (mtDNA) has proved particularly important in forensic applications addressing samples that are not amenable to the typing of highly polymorphic nuclear DNA markers. However, sequencing of only the non-coding control region is sometimes not sufficiently informative for acquiring the required discrimination power needed in some forensic investigations. With the availability of new sequencing technologies, analysis of the complete mitochondrial genome (mtGenome) has become feasible and is likely to evolve into a method of first choice. For challenging samples routinely encountered in forensic casework, such as hair shafts or teeth and bones, which suffer severe environmental stress, DNA quantity and/or quality sometimes is insufficient for conventional Sanger sequencing. The purpose of this study was to test the utility of an alternative technique, the so called mito tiling approach, relying on massively parallel (next generation) sequencing, to sequence the entire human mtGenome in 162 amplicons of about 175bp in length .

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High-throughput sequencing of forensic STRs and SNPs

High-throughput sequencing of forensic STRs and SNPs using the MiSeq benchtop sequencer

Xavier,C.; Parson,W.

Next Generation Sequencing (NGS) has been increasing its applications in forensic genetics in the last couple of years. Such methods bring a high multiplexing capacity and a deep sequencing resolution that put data under a new perspective. After proving its capacity with mitochondrial DNA and SNP markers, new assays comprising length polymorphisms are currently entering the market. Testing and evaluating such applications is then of utmost importance for validation and possible integration into routine casework laboratories.

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New insights into the Arawkan Diaspora

New insights into the Arawkan Diaspora: mtDNA control region analysis of two populations

Xavier,C.; Bodner,M.; Nagl,S.; Huber,G.; Silva,D.; Casas-Vargas,A.; Usaquén,W.; Gusmão,L.; Parson,W.

The colonization of South America remains an unveiled topic in what regards the number and the migration routes taken within the continent. Even though the scientific community agrees in the existence of two major routes (one following the Andean chain and another into the amazonian forest), there might have been other smaller routes that contributed to the actual dispersion of Native Americans.

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Approaching variation: an attempt

Approaching variation: an attempt

Niederstätter,H.; Huber,G.; Parson,W.

Neutral genetic variation among individuals forms the substrate of forensic DNA profiling, a discipline where microsatellites are of major interest. Additionally, the rapid advances in the elucidation of the structure and sequence of the human genome revealed a plethora of novel markers such as polymorphisms at single nucleotide positions (SNPs) or deletions/insertions, which gained significance in forensic science and beyond. Established applications, e.g. genotyping of Y-chromosomal SNPs and sequencing of the mitochondrial control region or parts thereof, fill vital niches, and novel approaches revealing bio-geographic ancestry or physical traits attract growing attention in the forensic scene. However, none of the available genotyping methods perfectly meets all of the diverse needs in everyday genetic testing.

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mtDNA investigation of the Cayapa

mtDNA investigation of the Cayapa (Chachi), an indigenous population of Ecuador with high record of the American founder lineage D4h3a

Bodner,M.; Huber,G.; Zimmermann,B.; Xavier,C.; Würzner,R.; Parson,W.

Native American mtDNA diversity is characterized by four common “pan-American” haplogroups (A2, B2, C1, D1) and several minor lineages with limited, sometimes enigmatic dispersal. After the rough picture of American colonization has been clarified in the last decades, the focus of Paleo-Indian mtDNA population genetics has moved towards high-resolution analyses of geographically restricted areas, single tribes, and minor or local lineages that may convey more detailed insights on (additional) migratory waves and routes in the peopling of the Americas.

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