Stephanie Dorman’s presentation of our analysis of Cancer Genome Atlas genomic and clinical data of somatic breast cancer on January 10, 2014  has been highlighted in the Breast Cancer Society of Canada blog:

http://www.bcsc.ca/blog/2014/01/29/london-citywide-breast-cancer-retreat-2014/

We have just published a  paper describing method and companion software for experimental validation of mutations with NGS (RNASeq) data:

Validation of predicted mRNA splicing mutations using high-throughput transcriptome data. Coby Viner, Stephanie N. Dorman, Ben C. Shirley, Peter K. Rogan. published in F1000Research ( http://f1000research.com/articles/3-8/v1 )

This approach fills a critical unmet need in genome-scale mutation analysis. Contact us if you want to trial the software.

Our abstract, “Identification, Prediction and Prioritization of Non-Coding Variants of Uncertain Significance in Heritable Breast/Ovarian Cancer,” has been accepted for presentation at the BRCA: Twenty Years of Advances – The Fifth International Symposium on Hereditary Breast and Ovarian Cancer Conference in Montreal, Quebec (Apr 23-25).

The authors are:

E.J. Mucaki(1), N. Caminsky(1), A. Stuart(1), C. Viner(1), B. Shirley(2), J.H. Knoll(1,2), P. Ainsworth(1), P.K. Rogan(1,2)

1) University of Western Ontario, 2) Cytognomix Inc., London,  Canada