Fig. 2: Test R2 (A) and TWAS power (B) comparison in simulation studies.
From: OTTERS: a powerful TWAS framework leveraging summary-level reference data

Various scenarios with proportions of true causal cis-eQTL \({p}_{{causal}}=\left(0.001,0.01\right)\) and gene expression heritability \({h}_{e}^{2}=\left(0.01,0.05,0.1\right)\) were considered in the simulation studies. Distribution of test R2 in 5000 simulations per method per scenario was presented using box-plot (A). The median was shown as a black bar. The lower and upper hinges corresponded to the 25th and 75th percentiles. Whiskers extended from the hinge to the value no further than 1.5 of the interquartile range. Data beyond the end of the whiskers were plotted individually. The GWAS sample size in the x-axis of panel B was chosen with respect to \({h}_{e}^{2}\) values. The proportion of phenotype variance explained by gene expression (\({h}_{p}^{2}\)) was set to be 0.025. TWAS was conducted using simulated GWAS Z-scores.