In:
Bioinformatics, Oxford University Press (OUP), Vol. 30, No. 21 ( 2014-11-01), p. 3115-3117
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/ . Contact: marcella.attimonelli@uniba.it Supplementary information: Supplementary data are available at Bioinformatics online.
Type of Medium:
Online Resource
ISSN:
1367-4811
,
1367-4803
DOI:
10.1093/bioinformatics/btu483
Language:
English
Publisher:
Oxford University Press (OUP)
Publication Date:
2014
detail.hit.zdb_id:
1468345-3
SSG:
12
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