Mitopore mtDNA integrity analysis data
This dataset comprises samples used in testing and benchmarking Mitopore.de, 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 Mitopore.de for mtDNA indel detection.
Steps to reproduce
Visit https://mitopore.de and upload FASTQ files in a zipped format. Start the analysis and await your results.