Table 2. Power of common gene-based rare variant tests and novel combined tests across select settings.
|
Power |
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Single tests | Combined tests | |||||||||||
| Total number of variants | Number of risk increasing variants (RRa) | Number of risk decreasing variants (RRa) | CMC | SKAT | SKAT-O | J(∞) | CT6: Min(p) | CT6: Fisher's | CT7: Min(p) | CT7: Fisher's | CT8: Min(p) | CT8: Fisher's |
| 64 Variants in the gene | 32 (2) | 0 | 1 | 1 | 1 | 0.99 | 1 | 1 | 1 | 1 | 1 | 1 |
| 16 (2) | 0 | 0.85 | 0.97 | 0.988 | 0.926 | 0.988 | 0.994 | 0.99 | 0.996 | 0.986 | 0.984 | |
| 8 (2) | 0 | 0.346 | 0.786 | 0.774 | 0.784 | 0.82 | 0.872 | 0.808 | 0.866 | 0.798 | 0.83 | |
| 4 (2) | 0 | 0.122 | 0.416 | 0.338 | 0.548 | 0.506 | 0.52 | 0.44 | 0.428 | 0.504 | 0.502 | |
| 2 (2) | 0 | 0.086 | 0.368 | 0.304 | 0.5 | 0.454 | 0.462 | 0.424 | 0.408 | 0.472 | 0.466 | |
| 1 (2) | 0 | 0.1 | 0.392 | 0.322 | 0.514 | 0.488 | 0.53 | 0.442 | 0.432 | 0.478 | 0.496 | |
| 32 Variants in the gene | 16 (2) | 0 | 0.986 | 0.99 | 0.996 | 0.944 | 0.996 | 0.998 | 0.994 | 0.996 | 0.994 | 0.996 |
| 8 (2) | 0 | 0.632 | 0.8 | 0.816 | 0.772 | 0.83 | 0.88 | 0.82 | 0.872 | 0.812 | 0.824 | |
| 4 (2) | 0 | 0.206 | 0.546 | 0.526 | 0.602 | 0.602 | 0.622 | 0.574 | 0.586 | 0.584 | 0.596 | |
| 2 (2) | 0 | 0.194 | 0.49 | 0.446 | 0.59 | 0.51 | 0.56 | 0.51 | 0.504 | 0.548 | 0.574 | |
| 1 (2) | 0 | 0.132 | 0.494 | 0.426 | 0.58 | 0.554 | 0.58 | 0.52 | 0.528 | 0.536 | 0.558 | |
| 32 Variants in the gene | 24 (1.1) | 8 (0.5) | 0.066 | 0.322 | 0.266 | 0.22 | 0.256 | 0.214 | 0.268 | 0.212 | 0.266 | 0.29 |
| 18 (1.1) | 6 (0.5) | 0.082 | 0.336 | 0.25 | 0.234 | 0.234 | 0.188 | 0.242 | 0.2 | 0.248 | 0.288 | |
| 12 (1.1) | 4 (0.5) | 0.05 | 0.184 | 0.134 | 0.134 | 0.122 | 0.114 | 0.126 | 0.108 | 0.154 | 0.164 | |
| 6 (1.1) | 2 (0.5) | 0.074 | 0.16 | 0.12 | 0.152 | 0.108 | 0.104 | 0.118 | 0.108 | 0.126 | 0.148 | |
| 3 (1.1) | 1 (0.5) | 0.074 | 0.152 | 0.126 | 0.144 | 0.132 | 0.13 | 0.136 | 0.122 | 0.138 | 0.146 | |
| 64 Variants in the gene | 48 (1.1) | 16 (0.5) | 0.108 | 0.518 | 0.418 | 0.248 | 0.348 | 0.302 | 0.362 | 0.35 | 0.364 | 0.392 |
| 36 (1.1) | 12 (0.5) | 0.068 | 0.404 | 0.322 | 0.24 | 0.3 | 0.27 | 0.312 | 0.288 | 0.302 | 0.314 | |
| 24 (1.1) | 8 (0.5) | 0.052 | 0.254 | 0.208 | 0.19 | 0.2 | 0.162 | 0.204 | 0.174 | 0.214 | 0.232 | |
| 12 (1.1) | 4 (0.5) | 0.048 | 0.134 | 0.116 | 0.116 | 0.1 | 0.11 | 0.102 | 0.108 | 0.126 | 0.132 | |
| 6 (1.1) | 2 (0.5) | 0.07 | 0.086 | 0.07 | 0.086 | 0.078 | 0.078 | 0.072 | 0.08 | 0.07 | 0.088 | |
| 3 (1.1) | 1 (0.5) | 0.05 | 0.1 | 0.078 | 0.11 | 0.078 | 0.078 | 0.08 | 0.066 | 0.092 | 0.104 | |
Bold indicates tests that are within 5% of optimal for single tests or within 5% of optimal for combined tests.
RR=Relative risk of causal variants.