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Chunk #68 — Methods — Summary-PrediXcan formula

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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
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Figure 1b shows the main analytic expression used by Summary-PrediXcan for the Z-score (Wald statistic) of the association between predicted gene expression and a phenotype. The input variables are the weights used to predict the expression of a given gene, the variance and covariances of the markers included in the prediction, and the GWAS coefficient for each marker. The last factor in the formula can be computed exactly in principle, but we would need additional information that is unavailable in typical GWAS summary statistics output such as phenotype variance and sample size. Dropping this factor from the formula does not affect the accuracy of the results as demonstrated in the close to perfect concordance between PrediXcan and Summary-PrediXcan results on the diagonal of Fig. 2a.