Association enrichment was performed using the INRICH method [38]. Using the WW data, we observe enrichment at an empirical P ≤ .05 for the synaptic co-expression network M13 [48], Mendelian disease genes [11], and both human (HARs) and primate-accelerated regions (PARs) [49]. None of these enrichments exceeded the experiment-wise corrected P ≤ .05. Due to overlapping samples between the ASD and PGC GWAS, INRICH analyses against the PGC schizophrenia study [19] was restricted to the noSWM3 ASD GWAS including the worldwide dataset minus the Swedish PAGES sample. This set was analysed in isolation and exceeded the experiment-wise correction (P = .008), with 19 of the 82 blocks included in the analysis overlapping these annotations. Finally, none of the 9708 canonical gene-sets examined in these analyses met the experiment-wise corrected P ≤ .05. A full summary of the INRICH analyses and associated files are given in the Additional files 6, 7, 8, 9, 10, 11, and 12. Of the top-ranked enrichments from canonical pathways, some of the gene-sets overlap those previously highlighted in ASD biology and include processes such as glutamate receptor activity, adheren/cell junctions and the beta-catenin nuclear pathway.
