As these analyses do not involve a case-control comparison, our input included all genes corresponding to all high confidence CNVs predicted from cases using full probe sets from each array. This provided for maximal detection resolution from each array-type. We determined whether RefSeq genes mapping within rare exonic CNV intervals in TS subjects were over-represented in one or more biological processes or functionally defined pathways compared to all known genes, using MetaCore (MC), PANTHER (PA) and Ingenuity Pathway Analysis (IPA) (see Methods in Supplement 1).
