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This article is part of the supplement: Beyond the Genome 2011

Open Access Invited speaker presentation

Interrogating the architecture of cancer genomes

Peter Campbell

  • Correspondence: Peter Campbell

Author Affiliations

Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK

Genome Biology 2011, 12(Suppl 1):I4  doi:10.1186/gb-2011-12-s1-i4


The electronic version of this article is the complete one and can be found online at: http://genomebiology.com/2011/12/S1/I4


Published:19 September 2011

© 2011 Campbell; licensee BioMed Central Ltd.

This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Invited speaker presentation

Cancer is driven by mutation. Using massively parallel sequencing technology, we can now sequence the entire genome of cancer samples, allowing the generation of comprehensive catalogs of somatic mutations of all classes. Bespoke algorithms have been developed to identify somatically acquired point mutations, copy number changes and genomic rearrangements, which require extensive validation by confirmatory testing. The findings from our first handful of genomes illustrate the potential for next-generation sequencing to provide unprecedented insight into mutational processes, cellular repair pathways and gene networks associated with cancer development. I will also review the possible applications of these technologies in a diagnostic and clinical setting and the potential routes for translation.