Reconstruction of mitochondrial genotypes from diverse next generation sequencing datasets

Peter Ulz, Michael R. Speicher, Gerhard Thallinger

Research output: Chapter in Book/Report/Conference proceedingConference paperpeer-review


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 was 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.
Original languageEnglish
Title of host publicationProceedings of the 10th International joint conference on Biomedical Engineering Systems and Technologies
Place of PublicationPorto, Portugal
Pagesin press
Publication statusPublished - 2017


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