Extended Data Fig. 1: Assessing the individual impact of step 1 of PolyFun (estimating functional enrichment) via perturbation analysis, by randomly shuffling different proportions of annotation coefficient estimates.
From: Functionally informed fine-mapping and polygenic localization of complex trait heritability
For each evaluated value of the proportion of shuffled annotation coefficient estimates, we report the number of experiments having each obtained FDR level >0 (left panel) and the number of experiments having each obtained power level >0 (right panel), out of 1000 experiments. FDR and power are reported with respect to identifying PIP ≥ 0.95 SNPs. Experiments with FDR = 0 (resp. power=0) are not reported in the left panel (resp. right panel) to improve clarity. Numerical reports are provided in Supplementary Table 6.
