Figure 2.

Percent carriers kept in Power Window models

For each gene (n = 65), the percent of the rare variant carriers from the whole-gene model who were retained by the PW model was evaluated for PW_Coding and PW_LoF. Within each model, the phenotypes were grouped into quantitative (pink) or binary (yellow) traits, and the genes were grouped based on the original genome-wide association as follows: LoF: original whole-gene associations had an absolute beta at least 3x as high in the LoF model as the coding model; coding and LoF: original whole-gene associations had a beta <3x as high for LoF as for coding (no gene-phenotype combinations had a whole-gene coding model absolute beta that was at least 3x higher than the whole-gene LoF beta). Two genes had 0 windows included in the final model for PW_coding (IFT140 and NF1), and 1 for PW_LoF (JAK2). Dotted horizontal line indicates the mean percent carriers kept in that category. The percent CDS kept can be found in (Figure S4).