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. 2020 May 25;11(5):586. doi: 10.3390/genes11050586

Table 3.

The Type I Error and Power for Gene-level Association Tests. We compared the power for simple burden, SKAT, and VT tests for the joint multi-allelic analysis and the analysis that discards multi-allelic sites. The power and type I error were assessed under a threshold of α=2.5×106 using 1,000,000 replicates.

MAF Cutoff Pct of Causal Variants Power
Burden/SKAT/VT Burden/SKAT/VT
Joint Multi-allelic Analysis Discard Multi-allelic Sites
Type I Error
0.01 0% 2.6 × 10−6/2.1 × 10−6/3.0 × 10−6 2.5 × 10−6/3.1 × 10−6/2.6 ×10−6
0.05 0% 2.5 × 10−6/2.3 × 10−6/2.3 × 10−6 3.0 × 10−6/2.1 × 10−6/2.7 × 10−6
Power—Causal Variants Have Uni-directional Effects
0.01 20% 0.50/0.39/0.68 0.42/0.35/0.61
50% 0.93/0.79/0.99 0.90/0.77/0.98
0.05 20% 0.42/0.39/0.71 0.37/0.36/0.64
50% 0.88/0.80/0.99 0.87/0.79/0.99
Power—Causal Variants Have Bi-directional Effects
0.01 20% 0.06/0.16/0.13 0.05/0.13/0.11
50% 0.14/0.44/0.31 0.14/0.40/0.29
0.05 20% 0.05/0.17/0.14 0.05/0.15/0.12
50% 0.12/0.42/0.30 0.12/0.40/0.30