Cytognomix‘s goal to enable complete gene or genome bioinformatic mutation interpretation for our customers and partners. We will be introducing multiple new types of mutation analyses to our MutationForecaster product over the coming year.
We will be introducing a new type of mutation analysis to the MutationForecaster product next week. It will still use the Shannon pipeline framework to present results of genome-wide variant analysis, except that instead of splicing mutations. it will identify transcription factor binding site mutations in gene promoters.
We have recently published 2 large patient-based studies where we have prioritized these and other types mutations for inherited breast cancer:
Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JHM and Rogan PK. Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known BRCA mutations. Human Mutation, 37:640-52, 2016
Mucaki, E*, Caminsky N*, Perri A, Lu R, Laederach A, Halvorsen, M, Knoll, JHM, Rogan PK. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer, BMC Medical Genomics, 9:19, 2016.
The information theory based models of these transcription factor binding sites have been validated by 4 different approaches. These are described in this article (link), which will be published next week in the journal, Nucleic Acids Research.