Figure 4.

Estimation of Effect Sizes of Rare Variants

(A) The distribution of absolute values of the estimated effect size from the CHDWB data as a function of the number of alleles in the sample. Boxes show mean and interquartile range with whiskers at 1.5 times IQR with outliers as single points.

(B) Comparison of estimated effect size distribution from the data (bold curve) and in the simulation (thin black curve) showing slight excess of larger effect variants in the observed data.

(C) Simulated model fit assuming a gamma distribution with gamma(1.5,0.12), for 472 genes in 279 individuals, showing excess of extreme expression as in the actual data (R² = 0.18, p = 0.0002).