Skip to main content
. Author manuscript; available in PMC: 2017 Aug 13.
Published in final edited form as: Nat Genet. 2017 Feb 13;49(4):504–510. doi: 10.1038/ng.3789

Figure 2.

Figure 2

Figure 2

Figure 2

Properties of class 2 de novo variants. (a) The proportion of de novo variants across each cohort split between class 1 (left) and class 2 (right) with CpG variants marked in black. Class 2 de novo variants are strongly enriched for CpG variants (P < 10−20). The corresponding figure using the non-psychiatric version of ExAC can be found in Supplementary Figure 2. (b) Expected recurrence rate (rate of class 2 de novo variants across ID/DD, ASD, and unaffected ASD siblings) given the sample size of the reference dataset. The red dot indicates the observed recurrence rate of the non-psychiatric version of ExAC. (c) Allele frequency distribution of class 2 de novo CpGs by cohort with the matching distribution of CpG variants in ExAC for comparison. Allele frequency distributions do not significantly differ (P=0.14; Wilcoxon rank sum test). Error bars represent 95% confidence intervals throughout (a) – (c). ID/DD, intellectual disability / developmental delay; ASD, autism spectrum disorder.