Exome capture kits have capture efficiencies that range from 40% to 60%. A significant amount of off-target reads are from the mito-chondrial genome. These unintentionally sequenced mitochondrial reads provide unique opportunities to study the mitochondria ge-nome. MitoSeek is an open-source software tool which can reliably and easily extract mitochondrial genome information from exome and whole genome sequencing data. MitoSeek evaluates mitochondrial genome alignment quality, estimates relative mitochondrial copy numbers, and detects heteroplasmy, somatic mutation, and structural variants of the mitochondrial genome. MitoSeek can be set up to run in parallel or serial on large exome sequencing datasets.


MitoSeek can downloaded at github.


Guo Y, Li J, Li CI, Shyr Y, Samuels DC: MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis. Bioinformatics 2013, 29(9):1210-1211.