Extended Data Fig. 4: Proportion of individuals carrying S-LoFs in autism-associated genes, S-LoFs in constrained genes or S-SYNs in autism-associated genes.
From: Phenotypic effects of genetic variants associated with autism
Proportions are shown in each sample, stratified by status and family relationship. Odds ratios and p values from two-sided Fisher exact tests. Error bars correspond to standard errors of the proportions. P values corrected for multiple testing using Bonferroni method for each variant type and gene set. SSC: Simons Simplex Collection (n = 2,041 individuals with autism, 1,944 siblings, 2,041 mothers and 2,041 fathers), SPARK: Simons Powering Autism Research for Knowledge (n = 6,239 individuals with autism, 2,344 siblings, 5,559 mothers and 5,559 fathers), iPSYCH: The Lundbeck Foundation Initiative for Integrative Psychiatric Research (n = 4,811 individuals with autism, 5,214 undiagnosed individuals), UKB: UK Biobank (n = 188,856 undiagnosed individuals).