eXtasy 0.1 – Variant Prioritization by Genomic data Fusion

eXtasy 0.1

:: DESCRIPTION

eXtasy is a pipeline for ranking nonsynonymous single nucleotide variants given a specific phenotype. It takes into account the putative deleteriousness of the variant, haploinsufficiency predictions of the underlying gene and the similarity of the given gene to known genes in the given phenotype.

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::DEVELOPER

Bioinformatics Research Group, Belgium

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Ruby
  • R package
  • Tabix
  • BEDTool

:: DOWNLOAD

   eXtasy

:: MORE INFORMATION

Citation

Nat Methods. 2013 Nov;10(11):1083-4. doi: 10.1038/nmeth.2656. Epub 2013 Sep 29.
eXtasy: variant prioritization by genomic data fusion.
Sifrim A, Popovic D, Tranchevent LC, Ardeshirdavani A, Sakai R, Konings P, Vermeesch JR, Aerts J, De Moor B, Moreau Y.