As part of the International Cancer Genome Consortium, the Queensland Centre for Medical Genomics has established a world class laboratory and computational infrastructure balanced with high level expertise to enable the analysis of whole human genomes for the presence of DNA, RNA and epigenetic variants that are associated
with the hallmarks of cancer. This talk will describe and discuss the principles and challenges of identifying structural variants (SVs) using whole genome sequencing. I will present the bases of SVs detection,a tool developed at the QCMG and examples of how SV analysis can identify mechanisms driving tumorigenesis.
First presented at the 2014 Winter School in Mathematical and Computational Biology http://bioinformatics.org.au/ws14/program/