MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

作者：Calabrese Claudia; Simone Domenico; Diroma Maria Angela; Santorsola Mariangela; Gutta Cristiano; Gasparre Giuseppe; Picardi Ernesto; Pesole Graziano; Attimonelli Marcella^*

来源：Bioinformatics, 2014, 30(21): 3115-3117.

DOI：10.1093/bioinformatics/btu483

Motivation: The increasing availability of mitochondria-targeted and off-target sequencing data in whole-exome and whole-genome sequencing studies (WXS and WGS) has risen the demand of effective pipelines to accurately measure heteroplasmy and to easily recognize the most functionally important mitochondrial variants among a huge number of candidates. To this purpose, we developed MToolBox, a highly automated pipeline to reconstruct and analyze human mitochondrial DNA from high-throughput sequencing data. %26lt;br%26gt;Results: MToolBox implements an effective computational strategy for mitochondrial genomes assembling and haplogroup assignment also including a prioritization analysis of detected variants. MToolBox provides a Variant Call Format file featuring, for the first time, allele-specific heteroplasmy and annotation files with prioritized variants. MToolBox was tested on simulated samples and applied on 1000 Genomes WXS datasets.

• 出版日期2014-11-1