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Chunk #5 — Results — PRS usage and performance in worldwide populations

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Analysis of polygenic risk score usage and performance in diverse human populations.
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By comparing representation of particular ancestry groups with world population estimates for those groups (Fig. 1b), it is possible to quantify the over- or under-representation of each major ancestry group. European ancestry representation was ~460% of what it would be if representation was proportional to world ancestry. In contrast, African ancestry (17%) and Latino samples (19%) were under-represented relative to world populations. East and South Asian samples are combined in this figure, but it should be noted that representation of East Asian samples is much higher than South Asian samples, which have been included in very few polygenic scoring studies to date. Relative to world populations for these groups, Middle Eastern and Oceanic populations have the lowest representation in polygenic scoring studies (10% and 0%, respectively).