Extended Data Figure 7: Duplication 15q syndrome analyses.

a, Copy number between breakpoints in the 15q region. Genome-wide copy number analysis allowed evaluation of copy number in additional regions from previous studies³⁶. b, Sample characteristics for the dup15q analyses (additional details available in Supplementary Table 1). c, Similar to Fig. 3b, but focusing on the lncRNAs found to be significantly differentially expressed in idiopathic ASD compared to control subjects. d, Comparison of DGE fold changes demonstrating that using different control samples (control samples used in the idiopathic analysis, column 2 of Extended Data Fig. 7b) for the dup15q cortex analysis yields similar findings. e, Similar to d except for the differential alternative splicing analysis. f, Comparison of heterogeneity in the DGE signal using the first principal component of the ASD cortex DGE set across all cortical samples used in DGE analyses. Samples from individuals with diagnoses confirmed by dup15q mutations, confirmed by Autism Diagnostic Interview-Revised (ADI-R), and supported by clinical records are all significantly different from controls by two-sided pairwise Wilcoxon rank sum tests. g, Similar to Fig. 3d, but with the larger set of controls from the idiopathic ASD versus control analysis in Fig. 1. h, i, P value distributions for DGE changes outside the 15q region for cortex and cerebellum. j, Similar to Fig. 3a, but for the cerebellum analysis. k, Comparison of significant DGE changes in the duplicated region from cortex with changes in cerebellum. l, Comparison of significant DGE changes outside of the dup15q region in cortex with changes in cerebellum. Scatter plot P values correspond to the statistical significance of the Pearson correlation coefficient between fold changes (see Methods).