Helena, the hidden beauty: Resolving the most common West Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample

Bodner,M.; Iuvaro,A.; Strobl,C.; Nagl,S.; Huber,G.; Pelotti,S.; Pettener,D.; Luiselli,D.; Parson,W.; The analysis of mitochondrial (mt)DNA is a powerful tool in forensic genetics when nuclear markers fail to give results or maternal relatedness is investigated. The mtDNA control region (CR) contains highly condensed variation and is therefore routinely typed. Some samples exhibit an identical haplotype in this restricted range. Thus, they convey only weak evidence in forensic queries and limited phylogenetic information. However, a CR match does not imply that also the mtDNA coding regions are identical or samples belong to the same phylogenetic lineage. [Read More]

Human settlement history between Sunda and Sahul: a focus on East Timor (Timor-Leste) and the Pleistocenic mtDNA diversity

Gomes,S.M.; Bodner,M.; Souto,L.; Zimmermann,B.; Huber,G.; Strobl,C.; Rock,A.W.; Achilli,A.; Olivieri,A.; Torroni,A.; Corte-Real,F.; Parson,W.; BACKGROUND: Distinct, partly competing, “waves” have been proposed to explain human migration in(to) today’s Island Southeast Asia and Australia based on genetic (and other) evidence. The paucity of high quality and high resolution data has impeded insights so far. In this study, one of the first in a forensic environment, we used the Ion Torrent Personal Genome Machine (PGM) for generating complete mitogenome sequences via stand-alone massively parallel sequencing and describe a standard data validation practice. [Read More]

Inter-laboratory evaluation of SNP-based forensic identification by massively parallel sequencing using the Ion PGM (TM)

Eduardoff,M.; Santos,C.; delaPuente,M.; Gross,T.E.; Fondevila,M.; Strobl,C.; Sobrino,B.; Ballard,D.; Schneider,P.M.; Carracedo,A.; Lareu,M.V.; Parson,W.; Phillips,C.; Next generation sequencing (NGS) offers the opportunity to analyse forensic DNA samples and obtain massively parallel coverage of targeted short sequences with the variants they carry. We evaluated the levels of sequence coverage, genotyping precision, sensitivity and mixed DNA patterns of a prototype version of the first commercial forensic NGS kit: the HID-Ion AmpliSeq (TM) Identity Panel with 169-markers designed for the Ion PGM (TM) system. [Read More]

Levels in neurotransmitter precursor amino acids correlate with mental health in patients with breast cancer

Hufner,K.; Oberguggenberger,A.; Kohl,C.; Geisler,S.; Gamper,E.; Meraner,V.; Egeter,J.; Hubalek,M.; Beer,B.; Fuchs,D.; Sperner-Unterweger,B.; Breast cancer is the most common cancer among females. Approximately 30% of cancer patients develop depression or depressive adaptation disorder within 5 years post diagnosis. Low grade inflammation and subsequent changes in neurotransmitter levels could be the pathophysiological link. In the current study we investigated the association of neurotransmitter precursor amino acids with a diagnosis of depression or state anxiety in 154 subjects suffering from breast cancer (BCA(+)), depression (DPR(+)), both or neither. [Read More]