Fig. 1

Overview of clinical application of statistical genomics and polygenic risk score. a Clinical application of statistical genomics for complex human diseases. b Overview of polygenic risk score construction. As a usual practice, PRS is calculated as a weighted sum of several risk variants from a genome-wide association study in one cohort with multiple p-value thresholds. The effect sizes are typically estimated as β (beta coefficients) or as odds ratios. After the PRS is calculated in one cohort, the distribution of individual PRS is assessed in another cohort