Table 1. Detailed overview of the different scenarios considered for the type I error and power study.
Investigation | Scenario | % of causal variants | Effect size weights | Direction of effect: Positive / Negative | Median (MAD) of explained variance in % |
---|---|---|---|---|---|
Type I error | 0 | 0% | c = 0 | - | - |
Power | 1 | 5% | c = 0.6 | 100% / 0% | 0.9% (0.6) |
2 | 5% | c = 0.3 | 100% / 0% | 0.2% (0.2) | |
3 | 5% | c = 0.2 | 100% / 0% | 0.1% (0.1) | |
4 | 10% | c = 0.6 | 100% / 0% | 1.9% (1.4) | |
5 | 10% | c = 0.3 | 100% / 0% | 0.5% (0.3) | |
6 | 10% | c = 0.2 | 100% / 0% | 0.2% (0.2) | |
7 | 20% | c = 0.6 | 100% / 0% | 3.8% (2.1) | |
8 | 20% | c = 0.3 | 100% / 0% | 1.0% (0.6) | |
9 | 20% | c = 0.2 | 100% / 0% | 0.4% (0.2) | |
10 | 50% | c = 0.6 | 100% / 0% | 9.1% (3.0) | |
11 | 50% | c = 0.3 | 100% / 0% | 2.4% (0.9) | |
12 | 50% | c = 0.2 | 100% / 0% | 1.1% (0.4) | |
13–24 | As in scenarios 1–12 | As in scenarios 1–12 | 80% / 20% | As in scenarios 1–12 | |
25–36 | As in scenarios 1–12 | As in scenarios 1–12 | 50% / 50% | As in scenarios 1–12 |
The scenarios vary the percentage of causal variants, their effect size, and the percentage of causal variants with effects in positive/ negative direction. Scenarios 13–24 and 25–36 have the same percentage of causal SNVs and the same effect sizes as scenarios 1–12, but 80% / 20% and 50% / 50% of effects in positive / negative direction. The percentage of causal rare variants is with respect to the total number of rare variants with MAF≤0.03 in the gene. The effect size of a variant with a given MAF on the trait Y is βi = c ∙ |log10(MAFi)|. The percentage of explained variance for a given gene is calculated as the sum of over all variants i in the gene. Reported are the median and the median absolute deviation (MAD) of this heritability estimate over the 10,000 replicates.