Figure 1

Workflow schema of the discovery phase. Variants with SIFT score less than 0.7 were incorporated into the GVB score calculation. Gene-wise multiple covariate linear regression was performed, and filtered genes were defined as candidate genes. Next, variant-wise multiple covariate linear regression was performed, and variants with filtered thresholds were deemed candidate variants. SIFT sorting intolerant from tolerant, GVB gene-wise variant burden.