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Table 1 Six genotype effect scenarios considered in simulation studies

From: Rare variants analysis using penalization methods for whole genome sequence data

Model-1:

10 % of variants in influential regions are causal with effect size +1, while each one is correlated with some neutral variants in their region.

Model-2:

10 % of variants in influential regions are causal with effect size ±1, while each one is correlated with some neutral variants in their region.

Model-3:

10 % of variants in influential regions are causal with effect size +1, while they are uncorrelated with other variants in their region.

Model-4:

10 % of variants in influential regions are causal with effect size ±1, while they are uncorrelated with other variants in their region.

Model-5:

20 % of variants in influential regions are causal with effect size selected from U(0.5,1), while 10 % are correlated and 10 % are uncorrelated with other causal and neutral variants in their region.

Model-6:

20 % of variants in influential regions are causal with effect size selected from U(−1,−0.5) and U(0.5,1) while 10 % are correlated and 10 % are uncorrelated with other causal and neutral variants in their region.