July 23, 2014. New US patent application published on exon definition mutation analysis

US Pat. Application No. 14/154,905 describes our method of predicting cryptic and exon skipping isoforms in mRNA produced by splicing mutations from the combined information contents and the distribution of the splice sites and other regulatory binding sites defining these exons.  Results obtained are highly concordant with result of expression studies.  A paper has been published in Human Mutation