Figure 1:

Exome-wide rare variant burden and liability in SPARK and ASC trio-sequenced cohorts. a, The sample size of the trio-sequenced individuals in the Simons Foundation Powering Autism Research for Knowledge study (SPARK) and the Autism Sequencing Consortium (ASC) cohorts. b, Sex-stratified de novo mutation rate ratios (left) and liability (right) (see Methods). For sex differences, a rate ratio > 1 indicates that females show a higher enrichment; a Z score > 0 indicates that females show a higher effect size on the liability scale. c, Over-transmission and liability of inherited variants were assessed using similar comparisons between parental alleles transmitted to autistic individuals and untransmitted alleles (see Methods). Error bars show 95% confidence intervals. See Supplementary Table S5 for the results shown here (Extended Tables) and sections 2.1.3 and 2.2.3 of the Supplementary Results (Supplementary Note) for further details on synonymous variant imbalances.