Figure 3.

Integrating expression outlier information highlights multiple classes of large-effect rare variants beyond PTVs

(A) Difference in outlier-associated variant burden across categories of variant effects as a functional of observed BMI Z score computed within PRS decile groups. Difference is with respect to outlier-associated variant abundance within bin [0,0.5). Individuals who have an observed BMI that deviates substantially from their PRS prediction are enriched for multiple classes of functional outlier-associated variants.

(B) BMI GWAS effect sizes for outlier-associated variants and PTVs. p value obtained from Wilcoxon test.

(C) BMI across deciles of IOGC score for outlier-associated variants and PTVs. p value obtained from linear regression.