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Article

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

Bioinformatics (Oxford, England) - 1 Nov 2014

Calabrese Claudia, Simone Domenico, Diroma Maria Angela, Santorsola Mariangela, Guttà Cristiano, Gasparre Giuseppe, Picardi Ernesto, Pesole Graziano, Attimonelli Marcella

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25028726
DOI: 10.1093/bioinformatics/btu483
PMCID: PMC4201154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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