Fig. 4
From: A phenome-wide scan reveals convergence of common and rare variant associations
Simulations reveal the relationship between CORAC and effective sample size under different genetic architectures. Using empirical genotype data from the UK Biobank, we simulated the effect size for each causal variant by fixing the total h2 = 0.3 in genetic architectures consistent with a neutral model (α = 0, a and b) and consistent with negative selection (α = − 0.37, c and d). We also investigated the impact of linkage disequilibrium on CORAC by decorrelating the common and rare variants (b and d; Methods). We varied the effective sample size (from 1000 to 10,000). The Spearman correlation coefficient between CORAC and effective sample size was calculated for each configuration