November 18, 2014. New review article on splicing mutation information analysis

We have published a review of the literature on information theory-based splicing mutations.  The review includes a large dataset, comprehensive bibliography, and new  software – the Splicing Mutation Calculator – for determining the impact of mutations at natural splice sites, based on the published literature.    There are multiple citations  of this work –

for the Review paper:  Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v1; ref status: awaiting peer review, http://f1000r.es/4nq] (doi: 10.12688/f1000research.5654.1), 2014.

for the Dataset:    F1000Research: Dataset 1. Dataset for mRNA splicing mutations in genetic disease, (doi: 10.5256/f1000research.5654.d382482)

for the Software:   The Splicing Mutation Calculator (SMC) is available at http://splicemc.cytognomix.com. Source code: http://dx.doi.org/10.5281/zenodo.12422

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