Abstract

Abstract 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. 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. Availability and implementation: MToolBox package is available at https://sourceforge.net/projects/mtoolbox/.

Autore Pugliese

• Picardi Ernesto , Pesole Graziano , Attimonelli Marcella

Tutti gli autori

• PICARDI E.;PESOLE G.;ATTIMONELLI M.

Titolo volume/Rivista

Non Disponibile

Anno di pubblicazione

2014

ISSN

1367-4803

ISBN

Non Disponibile

Numero di citazioni Wos

51

Ultimo Aggiornamento Citazioni

Non Disponibile

Numero di citazioni Scopus

52

Ultimo Aggiornamento Citazioni

Non Disponibile

Settori ERC

Non Disponibile

Codici ASJC

Non Disponibile