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Extracts causative variants in familial and sporadic genetic diseases. VariantMaster implements a methodology to evaluate the status (presence or absence) of a variant in familial or case-control contexts. The software allows users to identify causative variants in familial, sporadic germline, and somatic genetic disorders, including cancers. It also allows for the search of causative variants in one or more recurrently mutated genes in a pool of unrelated individuals sharing the same phenotype.

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VariantMaster forum

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VariantMaster classification

VariantMaster specifications

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

VariantMaster distribution

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VariantMaster support

Maintainer

  • Federico Andrea Santoni <>

Credits

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Publications

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

Funding source(s)

Supported by grants from the SNF (144082), ERC (249968), ChildCare and Gebert Foundations, and a grant from the Bodossaki Foundation.

By using OMICtools you acknowledge that you have read and accepted the terms of the end user license agreement.