March 15, 2013. Paper describing the Shannon pipeline for human mRNA splicing mutation analysis.

Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences.

B.C. Shirley, E.J. Mucaki, T. Whitehead, P.I. Costea, P. Akan, P.K. Rogan (2013), Genomics, Proteomics and Bioinformatics.

DOI:10.1016/j.gpb.2013.01.008

(http://www.sciencedirect.com/science/article/pii/S1672022913000296)

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