Figure 3:

Burden and liability of damaging protein truncating de novo mutations in 856 genes with male-biased expression in the human fetal cortex. a, The relative risk (rate ratio) attributed to de novo mutations (DNM), examined along with rare inherited variants (not shown), in trio-sequenced individuals from the Autism Sequencing Consortium (ASC) and the Simons Foundation Powering Autism Research for Knowledge (SPARK) cohorts, in two SPARK sub-cohorts of autistic individuals ascertained to have autism with or without co-occurring developmental delay or cognitive impairment (versus siblings), and compared directly between these two groups. b, The corresponding average liability attributed to DNMs (effect size on the liability scale). See Methods for details, Figures 1 and 2 for the sample sizes, and Figure S17 in section 6.2 of the Supplementary Methods (Supplementary Note) for a comparison against matched genes. The complete results of DNM and rare inherited variants (180 tests) are presented in Supplementary Table S7 (Extended Tables).