Simulation scenarios.

NS:S is the ratio of non-synonymous to synonymous variants; is the percentage of causal variants among the rare variants in a region, with being the percentage of causal variants among the non-synonymous ones, and being the proportion of causal variants among the synonymous ones; is the proportion of non-synonymous variants among the causal ones; is the proportion of non-synonymous variants among the non-causal ones (these values are calculated based on the NS:S ratio, , ). For non-synonymous variants only, we simulate two additional bioinformatic predictors (B1 and B2), meant to resemble the ‘damaging’ (including possibly and probably) and ‘probably damaging’ annotations from PolyPhen-2. is the proportion of causal variants that are labeled as ‘damaging’ and is the proportion of non-causal variants that are labeled as ‘damaging’. Similar notations for ‘probably damaging.’Simulation scenarios.