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Chunk #10 — Materials and Methods — Definitions and assumptions

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Meta-GWAS Accuracy and Power (MetaGAP) Calculator Shows that Hiding Heritability Is Partially Due to Imperfect Genetic Correlations across Studies.
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In line with other work, we define the effective number of SNPs, S, as the number of haplotype blocks (i.e., independent chromosome segments) [40], where variation in each block is tagged by precisely one genotyped SNP. By genotyped SNPs we also mean imputed SNPs. Hence, in our framework, there are S SNPs contributing to the polygenic score. Due to linkage disequilibrium (LD) this number is likely to be substantially lower than the total number of SNPs in the genome [41], and is inferred to lie between as little as 60,000 [15] and as much as 5 million [41].