Mucaki, E.J., Shirley, B.C. and Rogan, P.K., 2020. Expression changes confirm genomic variants predicted to result in allele-specific, alternative mRNA splicing. Frontiers in Genetics, 11: 109 (https://www.frontiersin.org/articles/10.3389/fgene.2020.00109/full).
(preprint in bioRxiv, 549089 [doi: https://doi.org/10.1101/549089])
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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.