Mutation detection in whole-genome sequencing – Ann-Marie Patch


Through landmark studies carried out as part of the Australian International Cancer Genome Consortium projects studying the molecular basis of pancreatic, ovarian and now melanoma tumours the development of robust mutation detection methods has been key. Initially at the Queensland Centre for Medical Genomics, at IMB and now at the QIMR Berghofer Medical Research Institute an expert team of researchers and informatics specialists have set up a high performing framework 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 the full range of mutation types including single nucleotide variants, indels up to large structural variants (SVs) using whole genome sequencing. I will present the bases of mutation detection for ICGC projects with examples of how mechanisms driving tumorigenesis may be identified.

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