It has been reported that about 70% of all rare missense mutations are deleterious [4], but since not all deleterious mutations necessarily contribute to disease-risk, we simulate 50% D-variants as the baseline, but investigate other levels also (see Results). As discussed in [32], a human gene may contain up to 1000 disease susceptibility variants, whereof only a part are polymorphic in a given sample. Resequencing studies of the coding parts of human genes suggest that 50 disease susceptibility variants is a realistic level [5],[7],[16], and we therefore simulate groups with 50 D-variants and 50 N-variants as the baseline, but investigate other levels also (see Results).
