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Authors: Peter Ulz 1 ; Michael R. Speicher 1 and Gerhard G. Thallinger 2

Affiliations: 1 Medical University Graz, Austria ; 2 Graz University of Technology, Austria

ISBN: 978-989-758-214-1

Keyword(s): Mitochondria, Next-generation Sequencing, Sequence Read Archive.

Related Ontology Subjects/Areas/Topics: Bioinformatics ; Biomedical Engineering ; Genomics and Proteomics ; Next Generation Sequencing ; Sequence Analysis

Abstract: The exponential growth of sequence databases in recent years opens up a lot of possibilities for reanalysis of public datasets. Here, we reanalyzed sequencing data from various experimental procedures to reconstruct the mitochondrial genome from sequence data of human samples. In a first step eight human cell lines were used to validate the approach and to ensure consistent genotype information across different library preparation techniques. Subsequently, 19,337 sequencing datasets were downloaded and checked for single-nucleotide variants and insertion or deletion events. We show that the mitochondrial genome can be inferred from many different library preparation techniques. We also generated reference mitochondrial genomes for eight cell lines. This approach may be used for sample identification as well as a general approach to study the mitochondrial genome from public sequencing data.

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Paper citation in several formats:
Ulz P., Speicher M. and Thallinger G. (2017). Reconstruction of Mitochondrial Genotypes from Diverse next Generation Sequencing Datasets.In Proceedings of the 10th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 3: BIOINFORMATICS, (BIOSTEC 2017) ISBN 978-989-758-214-1, pages 29-36. DOI: 10.5220/0006110200290036

@conference{bioinformatics17,
author={Peter Ulz and Michael R. Speicher and Gerhard G. Thallinger},
title={Reconstruction of Mitochondrial Genotypes from Diverse next Generation Sequencing Datasets},
booktitle={Proceedings of the 10th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 3: BIOINFORMATICS, (BIOSTEC 2017)},
year={2017},
pages={29-36},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0006110200290036},
isbn={978-989-758-214-1},
}

TY - CONF

JO - Proceedings of the 10th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 3: BIOINFORMATICS, (BIOSTEC 2017)
TI - Reconstruction of Mitochondrial Genotypes from Diverse next Generation Sequencing Datasets
SN - 978-989-758-214-1
AU - Ulz P.
AU - Speicher M.
AU - Thallinger G.
PY - 2017
SP - 29
EP - 36
DO - 10.5220/0006110200290036

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