VariantMaster pipeline

VariantMaster specifications

Information


Unique identifier OMICS_02261
Name VariantMaster
Software type Package/Module
Interface Command line interface
Restrictions to use None
Input format BAM, VCF
Operating system Unix/Linux
Programming languages Python
Computer skills Advanced
Version 1.02
Stability Stable
Maintained Yes

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Maintainer


  • person_outline Federico Andrea Santoni <>

Publication for VariantMaster

VariantMaster IN pipeline

2014
PMCID: 4006744
PMID: 24784881
DOI: 10.1371/journal.pgen.1004340

[…] reference for the calculation of coverage and reads on target. all experiments were performed using the manufacturer's recommended protocols without modifications., results were analyzed using the variantmaster software [31] in order to identify de novo variants as well as variants respecting different mendelian inheritance models (dominant with reduced penetrance, recessive, x-linked). […]

VariantMaster institution(s)
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Geneva University Hospitals-HUG, Service of Genetic Medicine, Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland
VariantMaster funding source(s)
Supported by grants from the SNF (144082), ERC (249968), ChildCare and Gebert Foundations, and a grant from the Bodossaki Foundation.

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