Table I.
Power estimates from simulations
| Outcome (%) | |||||
|---|---|---|---|---|---|
| Model | Hom. RR | Undetected | Assoc. only | Assoc. + deviation | Deviation detection rate among associations (%) |
| Multiplicative | 1.12 | 100 | 0 | 0 | – |
| Multiplicative | 1.22 | 94 | 5 | 0 | 5 |
| Multiplicative | 1.32 | 70 | 29 | 2 | 6 |
| Multiplicative | 1.42 | 49 | 49 | 2 | 5 |
| Multiplicative | 1.52 | 39 | 59 | 3 | 5 |
| Multiplicative | 2.02 | 23 | 73 | 4 | 5 |
| Dominant | 1.12 | 100 | 0 | 0 | – |
| Dominant | 1.22 | 84 | 9 | 7 | 46 |
| Dominant | 1.32 | 64 | 12 | 24 | 68 |
| Dominant | 1.42 | 56 | 10 | 34 | 77 |
| Dominant | 1.52 | 51 | 10 | 39 | 80 |
| Dominant | 2.02 | 41 | 9 | 51 | 86 |
| Recessive | 1.12 | 100 | 0 | 0 | – |
| Recessive | 1.22 | 84 | 8 | 7 | 47 |
| Recessive | 1.32 | 62 | 12 | 26 | 69 |
| Recessive | 1.42 | 52 | 11 | 37 | 76 |
| Recessive | 1.52 | 46 | 11 | 43 | 79 |
| Recessive | 2.02 | 32 | 11 | 58 | 85 |
The distribution of simulation outcomes over a range of disease models and effect sizes. The effect size is given by the homozygous RR (“Hom. RR”), which compares the risk of the two homozygotes. Each row shows results aggregated across the 20,968 simulations for a given disease model and effect size, effectively averaging over the allele frequency distribution in the ENCODE regions. The three possible outcomes from each simulation are: the hit SNP does not pass the scan and replication criteria (“Undetected”); that it passes these criteria but a subsequent deviation test is not significant (“Assoc. only”); or that this test is significant (“Assoc. + deviation”). The final column shows the proportion of simulations for which deviation was detected among those for which an association was detected (omitted for the smallest effect size due to very small numbers of detected associations). All figures are rounded to the nearest percentage. RR, relative risk; SNP, single nucleotide polymorphism.