On the utilization of polygenic risk scores for therapeutic targeting
Fig 1
Relationship between PRS, prevalence, and precision.
(A) Typical profile of the relationship between percentile of PRS and prevalence of a condition. Each point is estimated from a PRS derived from many thousands of variants in a population of hundreds of thousands of individuals, such as the UK Biobank. The color corresponds to the ratio of prevalence in the indicated percentile to the prevalence in all individuals in lower percentiles. The left axis assumes an overall prevalence of 2%, the right axis 20%. (B) Relationship between Precision and PRS. Precision is the proportion of individuals called positive who actually have the disease, and it is plotted for individuals above the 25th, 50th, 75th, 90th, and 95th percentile for the two prevalances in (A). The diameter of each point is proportional to the indicated Precision, for emphasis. The Sensitivity curve shows the approximate proportion of cases captured by the PRS at the indicated percentile. PRS, polygenic risk score.