September 27, 2013. New release of Shannon pipeline for detection of mRNA splicing mutations

Cytognomix has released a new version, V2.0, of the Shannon pipeline for mRNA splicing mutation analysis.    It is distributed by CLC bio for use with their Genomics workbench or server. Click here to download the updated documentation.

This release (2.0):

  • is 12x faster (complete genome in 10-15 min) than version 1.0 and has fewer dependencies
  • is compatible and can be installed from the latest and previous versions of the CLC  bio Workbench (6.5) and Server (5.0) software
  • now runs under Windows OS, (in addition to Linux and Mac iOS)
  • now handles insertions and deletions, (in addition to SNP snd DNPs),
  • performs gene set, ie. pathway, analysis on the genes found to contain mutations
  • has been updated to Ensembl v. 71 annotations
  • results can be optionally limited to Refseq genes,
  • and contains preset mutation filters to simplify analyses.

For laboratories that do not use CLC bio software, we have developed standalone version of the software which is available for custom integration into your existing NGS software analysis pipeline.  It does not require any CLC bio products, but produces the same results as those products.  Please contact Cytognomix if your are interested in this capability.

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