Identifying associations of de novo noncoding variants with autism through integration of gene expression, sequence, and sex information.

For PTVs, we did observe significant proband-sibling differences ( p < 0.05) when considering all probands and all siblings and all male proband-male sibling pairs, while male proband-female sibling pairs showed an enrichment that did not reach statistical significance (Additional file 1 : Table S2).

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Other terms related to synaptic transmission and transmembrane channels were also highly significant.

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We did not observe any significant signal after multiple testing corrections, though some associations were nominally significant (Additional file 1 : Supplementary text, Additional file 1 : Figure S1f).

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