The development and application of algorithms for interpreting next-generation Solexa sequencing data: creation of a genome-wide breast cancer mutation map

Breast cancer is the most common malignancy in North American women, with more than 20,000 new cases diagnosed each year in Canada. Promising new treatments like Herceptin take advantage of genetic changes that occur in breast cancer cells, which can be detected by assessing specific tumour biomarkers. This approach is possible thanks to the successful sequencing of the human genome and the development of faster, cheaper sequencing technologies. One such technology is the Illumina 1G, a sequencing platform that can sequence a full genome for medical purposes in a matter of weeks. However, this new technology requires the development of new methods for the analysis and interpretation of the output. Anthony Fejes is demonstrating the utility of these new sequencing technologies by applying them to the study of breast cancer. By fully sequencing the genome of breast cancer-derived cell lines, he will create a genetic “map” that identifies the location and nature of the changes underlying the transformation of healthy cells into cancer cells. He will then validate the maps by identifying specific genetic errors that contribute to the development of cancer, and attempt to identify currently available drugs that can be re-purposed to target these broken cellular elements. This combination of sequencing, computational analysis, and drug candidate testing provides a single “”genome-to-therapeutic”” work flow, demonstrating a method that can be applied to the development of personalized medicines. Fejes’ research will also allow researchers to find new approaches to the treatment of cancers, through development of a technique that can be applied to other genetic disorders.