Effect of Reference-Panel Size and GWAS Sample Size on Fine-Mapping Performance
Results are shown for a pair of variants (MAF of 2%) of which one is causal and the other is non-causal and whose correlation is 0.37. The effect size of the causal variant is such that the statistical power with 15,626 individuals is approximately 0.5 at a significance level of 5 × 10−8. The probability of the true causal configuration is plotted on the y axis. The x axis shows the estimated correlation of the variants from a reference genotype panel. The central 95% probability interval (dashed line) of the sampling distribution is shown for different reference genotype panels.
(A) GWAS summary statistics were computed with 15,626 individuals.
(B) GWAS summary statistics were computed with 50,000 individuals.