Figure 4.
Potential for clinical application. (A) Receiver operating characteristic (ROC) curve for the discriminative value of polygenic scores for hypotelorism, as shown by the area under the curve (AUC) for polygenic scores with different P-value thresholds for the inclusion of genetic variants. (B) ROC curve for the discriminative value of polygenic scores for hypertelorism, as shown by the AUC for polygenic scores with different P-value thresholds for the inclusion of genetic variants. (C) Power plot showing the power of the current genome-wide association studies for orbital telorism in comparison to high-density lipoprotein levels (64), height (65) and educational attainment (66). The lines show the expected fraction of heritability explained as a function of the sample size. The stars denote the fraction of heritability explained by genome-wide significant variants at the current sample size. (D) Bar plots showing the average AUC for hypotelorism and hypertelorism using telorism polygenic scores with different genome-wide association study sample sizes and P-value thresholds. The x-axis shows the discovery sample sizes of the telorism genome-wide association studies. The panels show the results for polygenic scores at different P-value thresholds for the inclusion of genetic variants.