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Fig. 3 | Genome Medicine

Fig. 3

From: A phenome-wide scan reveals convergence of common and rare variant associations

Fig. 3

Simulations indicate that negative selection, in line with enhancing polygenicity, dampens the convergence level. Using empirical genotype data from the UK Biobank, we simulated the effect size for each causal variant by fixing the total h2 = 0.3 under genetic models consistent with negative selection (α =  − 1, α =  − 0.37), a neutral model (α = 0), and positive selection (α = 0.5). The CORAC coefficients observed for these models are shown in both violin plot and boxplot along with the data points in grey (a). We also varied the proportion of causal genes as a proxy for polygenicity and observed decreased CORAC with increased polygenicity (b)

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