False Discovery Rates and Copy Number Variation

Copy number changes, the gains and losses of chromosome segments, are a common type of genetic variation among healthy individuals as well as an important feature in tumor genomes. Microarray technology enables us to simultaneously measure, with moderate accuracy, copy number variation at more than a million chromosome locations and for hundreds of subjects. This leads to massive data sets and complicated inference problems concerning which locations for which subjects are genuinely variable. In this paper we consider a relatively simple false discovery rate approach to cnv analysis. More careful parametric change-point methods can then be focused on promising regions of the genome.