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Chunk #20 — Methods

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Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics.
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To generalize the loss of statistical power to identify individual SNP effects, we need to make assumptions about their magnitude. One approach is to compute the squared standardized coefficients,1 approximated as \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$${r}^{2}={Z}^{2}/N$$\end{document}r2=Z2/N, and then evaluate the median among the subset of genome-wide significant SNPs (P < 5 × 10–8) in the down-sampled GWAS. Given that statistical power is the probability of correctly rejecting the null hypothesis when the alternative hypothesis is true, it can be computed as \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$1-{CDF}_{\lambda }[{\chi }_{1}^{2}$$\end{document}1-CDFλ[χ12], where \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$${CDF}_{\lambda }$$\end{document}CDFλ is the cumulative distribution function for a χ2 distribution with 1 degree of freedom and the non-centrality parameter \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$\lambda =N{r}^{2}$$\end{document}λ=Nr2. The sample size, \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$N$$\end{document}N, is set to the EffN of the summary statistics being evaluated. The term \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$${\chi }_{1}^{2}$$\end{document}χ12(c) is the critical value