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Nat Rev Genet. 2013 May;14(5):321-32. doi: 10.1038/nrg3445.

Cancer genome-sequencing study design.

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Genome Sciences Centre, BC Cancer Research Centre, 675 West 10th Avenue, Vancouver, British Colombia V5Z 1L3, Canada.


Discoveries from cancer genome sequencing have the potential to translate into advances in cancer prevention, diagnostics, prognostics, treatment and basic biology. Given the diversity of downstream applications, cancer genome-sequencing studies need to be designed to best fulfil specific aims. Knowledge of second-generation cancer genome-sequencing study design also facilitates assessment of the validity and importance of the rapidly growing number of published studies. In this Review, we focus on the practical application of second-generation sequencing technology (also known as next-generation sequencing) to cancer genomics and discuss how aspects of study design and methodological considerations - such as the size and composition of the discovery cohort - can be tailored to serve specific research aims.

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