Figure 1.

Simulation Study

(A and B) Results of the simulation study. Mean PPV at power of 80% over repeat simulation of the BeviMed, SKAT, ADA, and CAST rare variant association tests for data simulated using the expression in Equation 1 for various combinations of values of τ and π.

(C) Receiver operating characteristic (ROC) curves for the classification of variants as pathogenic by BeviMed for different values of π.

(D) Left: mean PPV at power of 80% for BeviMed and SKAT at τ = 0.2 and π = 0.85, for varying proportions of pathogenic and non-pathogenic variants being up-weighted in the co-data variables. Right: posterior mean of ϕ corresponding to the applications of BeviMed on the left-hand grid.

(E) Mean PPV at power of 80% over repeat simulation of the BeviMed and SKAT association tests for different values of k.