Gabriela Huber

Innsbruck Medical University

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i-10 index

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Co-Authors

Walther Parson

Universität Innsbruck

Bettina Zimmermann

University of Basel

Martin Bodner

Innsbruck Medical University

Christina Strobl

Innsbruck Medical University

Alexander Röck

Universität Innsbruck

Catarina Xavier

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto

Liane Fendt

Innsbruck Medical University

Jodi A. Irwin

Federal Bureau of Investigation

Alessandro Achilli

University of Pavia

Luís Souto

University of Aveiro

Cooperative Institutions

Innsbruck Medical University

Universität Innsbruck

University of Pavia

Centre National de la Recherche Scientifique

Universidade de Santiago de Compostela

Armed Forces Institute of Pathology

Sapienza University of Rome

University of Bologna

Estonian Biocentre

Université Toulouse III - Paul Sabatier

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High-quality mtDNA control region sequences from 680 individuals sampled across the Netherlands to establish a national forensic mtDNA reference database

Forensic Science International Genetics (2015)

Lakshmi Chaitanya Mannis van Oven Silke Brauer Bettina Zimmermann Gabriela Huber

mtDNA control region

Forensic Genetics

10.1016/j.fsigen.2015.12.002

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Citations (28)

Mitochondrial DNA control region analysis of three ethnic groups in the Republic of Macedonia

Forensic Science International Genetics (2014)

Renata Jankova-Ajanovska Bettina Zimmermann Gabriela Huber Alexander Röck Martin Bodner

A total of 444 individuals representing three ethnic groups (Albanians, Turks and Romanies) in the Republic of Macedonia were sequenced in the mitochondrial control region. The mtDNA haplogroup composition differed between the three groups. Our results showed relatively high frequencies of haplogroup H12 in Albanians (8.8%) and less in Turks (3.3%), while haplogroups M5a1 and H7a1a were dominant in Romanies (13.7% and 10.3%, respectively) but rare in the former two. This highlights the importance of regional sampling for forensic mtDNA databasing purposes. These population data will be available on EMPOP under accession numbers EMP00644 (Albanians), EMP00645 (Romanies) and EMP00646 (Turks).

Haplogroup

mtDNA control region

10.1016/j.fsigen.2014.06.013

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Citations (12)

The maternal inheritance of Alto Paraná revealed by full mitogenome sequences

Forensic Science International Genetics (2018)

Filipa Simão Christina Strobl Carlos Vullo Laura Catelli Patrícia Machado

Native american

10.1016/j.fsigen.2018.12.007

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Citations (18)

Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA

Forensic Science International Genetics (2018)

Ewelina Pośpiech Yan Chen Magdalena Kukla-Bartoszek Krystal Breslin Anastasia Aliferi

SNP

Massive parallel sequencing

SNP array

Ancient DNA

10.1016/j.fsigen.2018.08.017

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Citations (50)

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

BMC Genomics (2015)

Sibylle M. Gomes Martin Bodner Luís Souto Bettina Zimmermann Gabriela Huber

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. In this first representative investigation on the mitochondrial DNA (mtDNA) variation of East Timor (Timor-Leste) population including >300 individuals, we put special emphasis on the reconstruction of the initial settlement, in particular on the previously poorly resolved haplogroup P1, an indigenous lineage of the Southwest Pacific region. Our results suggest a colonization of southern Sahul (Australia) >37 kya, limited subsequent exchange, and a parallel incubation of initial settlers in northern Sahul (New Guinea) followed by westward migrations <28 kya. The temporal proximity and possible coincidence of these latter dispersals, which encompassed autochthonous haplogroups, with the postulated "later" events of (South) East Asian origin pinpoints a highly dynamic migratory phase.

Haplogroup

Ancient DNA

Lineage (genetic)

10.1186/s12864-014-1201-x

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Citations (44)

Massively parallel sequencing of complete mitochondrial genomes from hair shaft samples

Forensic Science International Genetics (2014)

Walther Parson Gabriela Huber Lilliana I. Moreno Maria‐Bernadette Madel Michael D. Brandhagen

Amplicon

Massive parallel sequencing

Sanger sequencing

Primer (cosmetics)

Multiplex

10.1016/j.fsigen.2014.11.009

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Citations (102)

The initial peopling of the Americas: A growing number of founding mitochondrial genomes from Beringia

Genome Research (2010)

Ugo A. Perego Norman Angerhofer Maria Pala Anna Olivieri Hovirag Lancioni

Pan-American mitochondrial DNA (mtDNA) haplogroup C1 has been recently subdivided into three branches, two of which (C1b and C1c) are characterized by ages and geographical distributions that are indicative of an early arrival from Beringia with Paleo-Indians. In contrast, the estimated ages of C1d--the third subset of C1--looked too young to fit the above scenario. To define the origin of this enigmatic C1 branch, we completely sequenced 63 C1d mitochondrial genomes from a wide range of geographically diverse, mixed, and indigenous American populations. The revised phylogeny not only brings the age of C1d within the range of that of its two sister clades, but reveals that there were two C1d founder genomes for Paleo-Indians. Thus, the recognized maternal founding lineages of Native Americans are at least 15, indicating that the overall number of Beringian or Asian founder mitochondrial genomes will probably increase extensively when all Native American haplogroups reach the same level of phylogenetic and genomic resolution as obtained here for C1d.

Beringia

Haplogroup

Lineage (genetic)

10.1101/gr.109231.110

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Citations (188)

Molecular genetic investigations on Austria's patron saint Leopold III

Forensic Science International Genetics (2012)

Christiane Maria Bauer Martin Bodner Harald Niederstätter Daniela Niederwieser Gabriela Huber

Daughter

10.1016/j.fsigen.2012.10.012

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Citations (14)

Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA

Ewelina Pośpiech Yan Chen Magdalena Kukla-Bartoszek Krystal Breslin Anastasia Aliferi

Human head hair shape, commonly classified as straight, wavy, curly or frizzy, is an attractive target for Forensic DNA Phenotyping and other applications of human appearance prediction from DNA such as in paleogenetics. The genetic knowledge underlying head hair shape variation was recently improved by the outcome of a series of genome-wide association and replication studies in a total of 26,964 subjects, highlighting 12 loci of which 8 were novel and introducing a prediction model for Europeans based on 14 SNPs. In the present study, we evaluated the capacity of DNA-based head hair shape prediction by investigating an extended set of candidate SNP predictors and by using an independent set of samples for model validation. Prediction model building was carried out in 9674 subjects (6068 from Europe, 2899 from Asia and 707 of admixed European and Asian ancestries), used previously, by considering a novel list of 90 candidate SNPs. For model validation, genotype and phenotype data were newly collected in 2415 independent subjects (2138 Europeans and 277 non-Europeans) by applying two targeted massively parallel sequencing platforms, Ion Torrent PGM and MiSeq, or the MassARRAY platform. A binomial model was developed to predict straight vs. non-straight hair based on 32 SNPs from 26 genetic loci we identified as significantly contributing to the model. This model achieved prediction accuracies, expressed as AUC, of 0.664 in Europeans and 0.789 in non-Europeans; the statistically significant difference was explained mostly by the effect of one EDAR SNP in non-Europeans. Considering sex and age, in addition to the SNPs, slightly and insignificantly increased the prediction accuracies (AUC of 0.680 and 0.800, respectively). Based on the sample size and candidate DNA markers investigated, this study provides the most robust, validated, and accurate statistical prediction models and SNP predictor marker sets currently available for predicting head hair shape from DNA, providing the next step towards broadening Forensic DNA Phenotyping beyond pigmentation traits.

SNP

Massive parallel sequencing

SNP array

Ancient DNA

1000 Genomes Project

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Citations (0)

Increasing the discrimination power of forensic STR testing by employing high-performance mass spectrometry, as illustrated in indigenous South African and Central Asian populations

International Journal of Legal Medicine (2010)

Florian Pitterl Konrad Schmidt Gabriela Huber Bettina Zimmermann Rhena Delport

DNA profiling

Forensic identification