MrMosaic specifications

Information


Unique identifier OMICS_20725
Name MrMosaic
Software type Package/Module
Interface Command line interface
Restrictions to use None
Input data Genomic loci with measured Bdev values, Cdev values, and genotypes, stored in a tab-delimited file.
Input format BAM, CRAM
Output data A file containing all the unfiltered candidate SV calls, A file containing candidate SV calls based on their loglikelihood of being a false positive.
Operating system Unix/Linux, Mac OS, Windows
Programming languages C, R
Computer skills Advanced
Stability Stable
Requirements
C-compiler, gada, yaml, argparse, devtools
Maintained Yes

Download


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Versioning


No version available

Documentation


Maintainers


  • person_outline Daniel King
  • person_outline Alejandro Sifrim
  • person_outline Tomas Fitzgerald
  • person_outline Raheleh Rahbari
  • person_outline Emma Hobson

Publication for MrMosaic

MrMosaic citation

library_books

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes

2018
Front Genet
PMCID: 5808353
PMID: 29467791
DOI: 10.3389/fgene.2018.00020

[…] mosaicism in epilepsy patients through gene panels and WES with the sequencing depth of mosaic variants ranging from 42X to 2574X. In addition, King et al. developed a method for detecting mosaicism (MrMosaic) (King et al., ) and determined the accuracy for detecting mosaicism in targeted NGS (gene panels and WES) and WGS increased with sequencing depth. An example of this is the detection of hete […]

MrMosaic institution(s)
Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Chapel Allerton Hospital, Leeds, UK; Southwest Thames Regional Genetics Centre, St George's Healthcare NHS Trust, London, UK; East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, UK; South East Thames Regional Genetics Centre, Guys Hospital, London, UK; St Michael ′s Hospital, Bristol, UK; Leicester Royal Infirmary, Leicester, UK
MrMosaic funding source(s)
Supported by the Health Innovation Challenge Fund (HICF-1009-003); a parallel funding partnership between the Wellcome Trust and the Department of Health; and the Wellcome Trust Sanger Institute (WT098051).

MrMosaic review

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Mike_D

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Desktop
Hard to install (bugs) and segmentation fault at first step of analysis... Do not recommend.