Mitopore mtDNA integrity analysis data

Published: 22 January 2024| Version 2 | DOI: 10.17632/6k5gmhwvd5.2
Jochen Dobner,
, Andrea Rossi


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 five folders (iPSCs, WGS, NGS, patient-derived and control samples, semi-synthetic indel data) with basecalled data derived from Oxford Nanopore Technologies (ONT), Pacbio (PACBIO), 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). WGS: FASTQ files of Whole genome sequencing-derived data (ONT_WGS, ILLUMINA_WGS, PACBIO_WGS) on the KOLF2.1J line to analyze with the appropriate read aligner using; used to compare the Mitopore approach with other sequencing technologies. It also contains a sample prepared with the Mitopore workflow (MITOPORE_APPROACH). - 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 single 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