Figure 4.

lcWGS genotype uncertainty influences PGS-based risk stratification in real data

Individuals are defined as high risk for seven real PGSs if their dosage PGS value is in the top decile of the cohort’s dosage PGS values. All high-risk individuals are further classified into risk groups based on their PGS CI. Individuals who have their PGS CI overlap with the dosage PGS 90% threshold are labeled as “uncertain above threshold” (light orange), in contrast to individuals whose entire PGS CI is above the threshold, labeled as “certain above threshold” (dark orange). On average only 20% of individuals classified as high risk are also classified as “certain above threshold.”