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Chunk #67 — Methods — Replication analyses

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A saturated map of common genetic variants associated with human height.
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To assess the replicability of our results, we tested whether the correlation ρb of estimated SNP effects between our discovery GWAS and our replication sample of 49,160 participants of the EBB was statistically different from 1. We used the estimator of ρb from a previous study60, which accounts for sampling errors in both discovery and replication samples. Standard errors were calculated using a leave-one-SNP-out jackknife procedure. We quantified the correlation of marginal and also that of joint SNP effects. Joint SNP effects in our replication sample were obtained by performing a single-step COJO analysis of GWAS summary statistics from our EBB sample, using the same LD reference as in the discovery GWAS. Correlation of SNP effects were calculated after correcting SNP effects for winner’s curse using a previously described method12. We provide the R scripts used to apply these corrections and estimate the correlation of SNP effects (see ‘URLs’ section). The expected proportion, E[P], of sign-consistent SNP effects between discovery and replication was calculated using the quadrant probability of a standard bivariate Gaussian distribution with correlation E[ρb], denoting the expected