For the Recessive, Additive and Dominant models, we sampled the unaffected population frequency spectrum of the mutations at each variant according to Wright's formula [34],[35]:where f(p) is the probability function of the mutation-probability p, βS is the scaled mutation rate of disease mutations, is the scaled back-mutation rate and s is the scaled selection rate [32]. The constant c normalizes the integral of f(p) to 1. The frequency spectrum for each variant is sampled with parameters for mildly deleterious mutations, βS = 0.001, = βS/3 and s = 12, as discussed by [32].
