Journal
BIOINFORMATICS
Volume 30, Issue 21, Pages 3115-3117Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btu483
Keywords
-
Categories
Funding
- Progetto Strategico 'Invecchiamento' e 'Medicina Personalizzata' (CNR, Italy)
- ReCaS project [PONa3_00052]
- PRIN fund
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available