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Fig. 4 | Human Genomics

Fig. 4

From: Implementation and implications for polygenic risk scores in healthcare

Fig. 4

Examples of potential visualization schemes utilizing UK BioBank data for cardiovascular disease (CVD). Polygenic risk scores (PRSs) in a and b are on a 0–10 scale. b Relative risk (RR) can be represented as the scaled score with the colors green, yellow, and red indicating low, average, and high risk, respectively, to help increase understanding. a A normal distribution curve can also be used with a scaled score for relative risk along with a green to red gradient representing low to high relative risk of developing CVD within a subject’s lifetime. This graph can be represented with people or a solid color gradient. d Clinical factors can also be integrated into a more complex figure modeled from the Framingham Index for CVD with PRS quartiles serving as a static reference for other clinical factors to later adjust the absolute risk (AR) of CVD indicated by the percentage within each square (aka risk block). The AR has been adjusted based on age, sex, smoking history, and blood pressure (BP) in this example. c Given known patient factors, a sub-group of risk blocks can be excised from the larger figure for a said patient, showing the improvements to AR by reducing BP and not smoking while still acknowledging the impacts of age, sex, and genetic risk

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