Welcome to the MToolBox-snakemake documentation!¶
MToolBox is a pipeline for SNP calling and annotation in mitochondrial genomes. Since its first publication in 2014, it has been used in >30 peer-reviewed clinical studies. We have developed a new snakemake implementation (available here), which includes the mtoolnote module for variant functional annotation in order to facilitate its usage and to offer an integrated and user-friendly tool, with the aim of providing results, tables and plots ready to be discussed and used to drive downstream analyses and wet-lab experiments.
And with this new implementation, MToolBox is also capable of analysing also mt data from other species!
Eager to use MToolBox? Follow our tutorials to install and run the pipeline!