April 24, 2012. Mutation interpretation in deep sequencing data

Cytognomix’s new software product, the Shannon pipeline for human splicing mutation analysis of NGS sequencing data was presented at the BioIT World Conference and Expo (Apr 24-26, 2012), Boston.

Dr. Rogan describes our poster:

Large scale interpretation and stratification of non-coding sequence variants in the human genome. Ben Shirley1,Eliseos Mucaki2, & Peter Rogan1,2,3. Depts of Computer Science1 and Biochemistry2, and Cytognomix Inc3, London ON, Canada.