Fig. 4: External validation.

a Odds ratios (ORs) of Mendelian genes (first row) and of candidate genes of the five selected methods (rows) for common complex subtypes of the five Mendelian disorder groups. ORs with FDR > 0.05 (Fisher’s exact test) in gray. b, c LoF intolerance and missense mutation intolerance Z-scores of Mendelian genes, and the indicated candidate and non-candidate sets generated by the five methods. Shown are group means and 95% confidence intervals of Tukey’s HSD test. Colored symbols and error bars indicate P < 0.05 in comparison with respective non-candidate sets; not significant sets in gray. Dashed line indicates the mean across all genes. Precise P values, FDR, and n for each test in each panel are shown in Supplementary Data 8, 14, and 15, respectively.