Mitopore mtDNA integrity analysis data

Published: 9 August 2023| Version 1 | DOI: 10.17632/6k5gmhwvd5.1
Jochen Dobner,


This dataset comprises samples used in testing and benchmarking, a user-friendly, comprehensive web server-based software to analyze the integrity of mitochondrial DNA (mtDNA) derived from short- and long-read sequencing. It contains four folders (iPSCs, NGS, patient-derived and control samples, semi-synthetic indel data) with basecalled data derived from Oxford Nanopore Technologies (ONT) and Illumina next generation sequencing (NGS) in FASTQ format: - iPSCs: ONT mtDNA sequencing data (Flongle flow cell) from commercially available and in-house genome-edited induced pluripotent stem cells (iPSCs). - NGS: Illumina NGS (MiSeq) data for samples with known heteroplasmy levels to benchmark the approach for ONT sequencing. - patient-derived and control samples: ONT sequencing data (Flongle flow cell) for samples derived from patients harboring mtDNA mutations - semi-synthetic indel data: Artificially introduced indel mutations into a real ONT sequencing-derived FASTQ dataset (Flongle flow cell) to benchmark for mtDNA indel detection.


Steps to reproduce

Visit and upload FASTQ files in a zipped format. Start the analysis and await your results.


Leibniz-Institut fur umweltmedizinische Forschung an der Heinrich-Heine-Universitat Dusseldorf gGmbH


Free Software, DNA Sequencing, Mitochondrial DNA, Next Generation Sequencing