November 18, 2014. Differential accessibility of scFISH probes to metaphase chromosomes published.

We have published a new manuscript which has implications for metaphase chromosome epigenetics. The citation is:

Title: Localized, non-random differences in chromatin accessibility between homologous metaphase chromosomes
Authors: Khan A Wahab, Rogan K Peter, Knoll  Joan,

Journal: Molecular Cytogenetics.2014, 7:70
DOI: 10.1186/s13039-014-0070-y

URL: http://www.molecularcytogenetics.org/content/7/1/70

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

November 14, 2014. New paper on lymph node metastatic breast cancer uses MutationForecaster system

Cytognomix’s technology key to new publication on origin of metastasis in breast cancer:

Dorman S, Viner C, Rogan PK. Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer, Nature Scientific Reports, 4: 7063 (DOI: 10.1038/srep07063), 2014.

Press Release. Dorman et al. Nat. Sci. Reports 2014