combined_cnv

This workflow combines results from the GNOSIS CNV (CopyNumber Variation) detection algorithm and PennCNV detection algorithm (including X-Chromosome detection) to produce a file containing Merged CNVs. It then processes these further to compare the results with a list of Common CNVs, and assesses the overlap of parent and children CNVs. Finally it annotates the results.

Scientists:Christopher Mason, Stephan Sanders, and Matthew State (Yale)