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. 2017 May 31;12(5):e0178504. doi: 10.1371/journal.pone.0178504

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 2MAFi(1MAFi)βi2/Var(Y) 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.