calling (Supplementary Fig. 11); (iii) genomic regions with extremes of GC content, which produces hybridization bias; or (iv) samples contributing to multiple CNVRs. See ParseCNV for details (see URLs). We statistically adjusted for the relatedness of cases using permutation (1,000×). Three lines of evidence were considered to establish statistical significance: independent replication with P < 0.05, permutation significance of the observations and no control-enriched significance. We used DAVID (Database for Annotation, Visualization and Integrated Discovery)58 to assess the significance of the functional annotation clustering of independently associated CNV results into InterPro categories.
