Fig. 3: Contribution of de novo and inherited pdSNVs to high confidence ASD/NDD genes.

De novo and inherited pdSNVs include PTVs in genes with LOEUF score <0.6 (PTV_LOEUF), missense variants with MPC ≥ 2 (DmisB) and missense variants with 1 ≤ MPC < 2 (DmisA). Contribution of each variant type identified in ASD individuals and unaffected siblings for a list of genes previously associated to ASD (a) and NDD (b). The list of ASD genes comprised 185 genes associated at FDR ≤ 0.05⁵ and 135 genes with FDR < 0.1⁶ (88 of which were common between the two lists). In our cohort, pdSNVs were identified in 97 ASD genes (a). The list of NDD genes included 452 genes from a list of 664 genes associated at FDR ≤ 0.05, after the exclusion of the genes already included among the 232 ASD genes⁵. In our cohort, pdSNVs were identified in 139 NDD genes (b). **, genes with FDR ≤ 0.001⁵; *, genes with FDR ≤ 0.05⁵; §, genes with FDR < 0.1⁶; dotted line indicates a putative de novo PTV_LOEUF.