Previous studies have reported that rare CNVs associated with neuropsychiatric disorders are enriched for genes involved in neurodevelopment (Walsh et al., 2008 and Zhang et al., 2009). Here we examined whether genes impacted by de novo CNVs in SCZ and BD are enriched in specific functional categories. Pathway enrichment analysis was performed on the sets of genes overlapping with de novo CNVs in SCZ, BD, and controls (see Experimental Procedures). Enrichment of functional classes of genes was tested using the DAVID software (http://david.abcc.ncifcrf.gov/), followed by two additional permutation-based tests to correct for the known bias of CNVs toward large genes (Raychaudhuri et al., 2010), one implemented as a case-only analysis and a second implemented as a case-control analysis in PLINK (http://pngu.mgh.harvard.edu/~purcell/plink/cnv.shtml#burden2).
