We extended our analysis of pathways identified in this study (Table 4 and Table 5, and S7) to rare CNVs from large case-controls studies of SCZ and BD. These included rare CNVs from 8,290 SCZ cases and 7,431 controls from Vacic et al. (2011), a combined sample of three studies from our group, MGS (Levinson et al., 2011), and the International Schizophrenia Consortium (International Schizophrenia Consortium, 2008), and a BD case-control data set consisting of 2,777 cases and 3,508 controls from BiGS study (Smith et al., 2009). Pathway enrichment was assessed using the case-control CNV enrichment test implemented in PLINK.
