title: Cancer genome-sequencing study design.
abstract: 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.
authors.affiliation: Genome Sciences Centre, BC Cancer Research Centre, 675 West 10th Avenue, Vancouver, British Colombia V5Z 1L3, Canada.
authors.forename: Jill C
authors.initials: JC
authors.lastname: Mwenifumbo
authors.forename: Marco A
authors.initials: MA
authors.lastname: Marra
mesh_terms: D020869:Gene Expression Profiling; D015894:Genome, Human; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D012107:Research Design / Q000639:trends*; D017422:Sequence Analysis, DNA / Q000379:methods*; D059467:Transcriptome