RareVariantVis 1.6.2 – Visualization of Rare Variants in Whole Genome Sequencing data

RareVariantVis 1.6.2

:: DESCRIPTION

RareVariantVis is a new tool for analysis of genome sequence data (including non-coding regions) for both germ line and somatic variants.

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::DEVELOPER

Tomasz Stokowy <tomasz.stokowy at k2.uib.no>

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / WIndows/ MacOsX
  • R
  • BioConductor

:: DOWNLOAD

 RareVariantVis

:: MORE INFORMATION

Citation

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.
Stokowy T, Garbulowski M, Fiskerstrand T, Holdhus R, Labun K, Sztromwasser P, Gilissen C, Hoischen A, Houge G, Petersen K, Jonassen I, Steen VM.
Bioinformatics. 2016 Jun 10. pii: btw359.