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. 2021 Mar 9;108(4):620–631. doi: 10.1016/j.ajhg.2021.02.013

Table 1.

The effect of natural selection on identifying high-risk individuals

τ Shared (Europe) Private (Europe) Shared (Africa) Private (Africa)
0 35% 22% 28% 11%
0.25 11% 20% 7% 18%
0.5 0% 46% 0% 44%

Percentage of individuals in the extreme 5% tail of the true polygenic score distribution that are recovered when using only private variants and shared variants in simulated European and African populations. Overall, the percentage of individuals correctly classified is low, suggesting that there will be many false negatives when using polygenic scores to identify individuals in the tails of the risk distribution. Further, as the degree of coupling between fitness effects and trait effects increases, shared variants correctly classify fewer individuals, while private variants classify more individuals correctly.