Table 2.
Power Comparisons of Sequencing-Based and Variant-Based Replication under Variable Effect Model
Ratesa |
Power for Replicationb |
|||||
---|---|---|---|---|---|---|
Number of Cases/Controls in Stage 1 and 2 Samples | False Positive | False Negative | Assay Succes | Error Ratio | Sequence-Based | Variant-Based |
250/250c | 0 | 0 | 1 | 1 | 0.542 | 0.507 |
1% | 4% | 0.9 | 0.5 | 0.521 | 0.458 | |
1 | 0.452 | |||||
6.3% | 1% | 0.9 | 0.5 | 0.520 | 0.466 | |
1 | 0.461 | |||||
10% | 5% | 0.9 | 0.5 | 0.503 | 0.459 | |
1 | 0.447 | |||||
500/500c | 0 | 0 | 1 | 1 | 0.731 | 0.708 |
1% | 4% | 0.9 | 0.5 | 0.719 | 0.675 | |
1 | 0.667 | |||||
6.3% | 1% | 0.9 | 0.5 | 0.718 | 0.674 | |
1 | 0.674 | |||||
10% | 5% | 0.9 | 0.5 | 0.701 | 0.672 | |
1 | 0.661 | |||||
2000/2000d | 0 | 0 | 1 | 1 | 0.827 | 0.825 |
1% | 4% | 0.9 | 0.5 | 0.816 | 0.780 | |
1 | 0.766 | |||||
6.3% | 1% | 0.9 | 0.5 | 0.814 | 0.781 | |
1 | 0.769 | |||||
10% | 5% | 0.9 | 0.5 | 0.802 | 0.781 | |
1 | 0.755 | |||||
3500/3500d | 0 | 0 | 1 | 1 | 0.899 | 0.898 |
1% | 4% | 0.9 | 0.5 | 0.893 | 0.870 | |
1 | 0.863 | |||||
6.3% | 1% | 0.9 | 0.5 | 0.893 | 0.868 | |
1 | 0.865 | |||||
10% | 5% | 0.9 | 0.5 | 0.886 | 0.874 | |
1 | 0.858 |
Significance levels for small-scale study: αS1 = 0.05 and αS2 = 0.05.
Significance levels for large-scale study: αS1 = 2.5 × 10−6 and αS2 = 2.5 × 10−6.
The impact of different combinations of false-positive/false-negative rate, assay success rate, and genotyping and sequencing error rate ratio on the replication power is examined.
The power was empirically estimated based upon 10,000 replicates.