Figure 1.

The unaffected mother and twins exhibit excessive rare-variant burden on a high PGR background. Rare-variant burden, shown on the x-axis, was estimated using an unaffected population of 506 individuals with European ancestors from the 1000 Genomes project. Because association with ASD is not broadly applicable for individual rare variants, only variants associated with happloinsufficient putative ASD genes were considered. PGRs, shown on the y-axis, were estimated through the association of ASD with common SNPs observed by the Psychiatric Genomics Consortium. These scores were then compared to the unaffected population from the 1000 Genomes project. Reported scores are normalized.