Contacts, Support and Citations

Contacts

dome.simone [at] gmail.com

claudia.calabrese23 [at] gmail.com

roberto.preste [at] gmail.com

If you use MToolBox, please cite:

Calabrese C, Simone D, Diroma MA, Santorsola M, Guttà C, Gasparre G, Picardi E, Pesole G, Attimonelli M. MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing. Bioinformatics. 2014 Nov 1;30(21):3115-7. doi: 10.1093/bioinformatics/btu483. Epub 2014 Jul 14. PubMed PMID: 25028726; PubMed Central PMCID: PMC4201154.

If you would like to use also MToolBox GUI, please visit:

https://mseqdr.org/mtoolbox.php

and refer to:

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X, MSeqDR Consortium Participants. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab. 2015 Mar;114(3):388-96. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4. Review. PubMed PMID: 25542617; PubMed Central PMCID: PMC4512182.

If you would like to have more details about the variants prioritization method implemented in MToolBox, please refer to:

Santorsola M, Calabrese C, Girolimetti G, Diroma MA, Gasparre G, Attimonelli M. A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest. Hum Genet. 2016 Jan;135(1):121-36. doi:10.1007/s00439-015-1615-9. Epub 2015 Nov 30. PubMed PMID: 26621530; PubMed Central PMCID: PMC4698288.

Need support for MToolBox (command-line version)?

Please join the MToolBox google group: https://groups.google.com/forum/?hl=IT#!forum/mtoolbox-users or open an issue on the MToolBox github page