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. Author manuscript; available in PMC: 2020 Feb 26.
Published in final edited form as: Nat Neurosci. 2019 Aug 26;22(9):1521–1532. doi: 10.1038/s41593-019-0461-9

Figure 5.

Figure 5.

MAE SNPs across control, ASD, and dup15q groups. (a) Venn diagram showing overlap of MAE SNPs across groups. Less than 15% of MAE SNPs were overlapped between cases and controls. (b) The number of major allele MAE SNPs and minor allele MAE SNPs across groups. Both chi-square test p-values in ASD and dup15q compared to control are <2.2e-16. (c) Minor allele MAE fraction (minor / (major + minor)) across chromosomes for control, ASD, and dup15q. (d) Gene set enrichment for major and minor allele MAE genes in control (n=69), ASD (n=62), and dup15q (n=15) groups (Methods). Enrichment was assessed for known ASD risk genes (SFARI36; Methods), known imprinted (Methods), PSD32, FMRP target28, HuR target29, and RBFOX1 target genes30. Enrichment was assessed separately for genes showing major allele and minor allele MAE. Dup is for dup15q.