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Chunk #5 — Online Methods: — Polygenic score calculation in the validation dataset

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Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
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Scores were generated by multiplying the genotype dosage of each risk allele for each variant by its respective weight, and then summing across all variants in the score using PLINK2 software.35 Incorporating genotype dosages accounts for uncertainty in genotype imputation. The vast majority of variants in the GPSs were available for scoring purposes in the validation dataset with sufficient imputation quality (INFO > 0.3); Supplementary Tables 1–6.