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Imputing Phenotypes for Genome-wide Association Studies

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Presentation on theme: "Imputing Phenotypes for Genome-wide Association Studies"— Presentation transcript:

1 Imputing Phenotypes for Genome-wide Association Studies
Farhad Hormozdiari, Eun Yong Kang, Michael Bilow, Eyal Ben-David, Chris Vulpe, Stela McLachlan, Aldons J. Lusis, Buhm Han, Eleazar Eskin  The American Journal of Human Genetics  Volume 99, Issue 1, Pages (July 2016) DOI: /j.ajhg Copyright © 2016 American Society of Human Genetics Terms and Conditions

2 Figure 1 The Pairwise Correlation between Each Phenotype Pair in the NFBC Dataset The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

3 Figure 2 Difference between the Imputed Marginal Statistics and Analytical Marginal Statistics for TG Phenotype Imputed marginal statistics are obtained from the association between the genotype and the imputed phenotype. Analytical marginal statistics are equal to the marginal statistics computed on the true target phenotype scaled by rimp. The blue curve is the normal distribution with a mean of 0 and a variance of 1 − rimp2. This histogram indicates that the difference follows a normal distribution (mean 0 and variance 1 − rimp2). Thus, for most null variants the NMM assumption holds. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

4 Figure 3 An Increase of rimp Increases the Statistical Power
The x axis is the rimp and the y axis is computed power. Shown are the effect of rimp on the power of imputing the TG phenotype for rs (A), rs (B), rs (C), and rs (D). The TG phenotype in the NFBC data was imputed using HDL, LDL, CRP, and GLU phenotypes. The black circle indicates the rimp and the statistical power for a combination of four phenotypes to impute TG for one variant. The red curve indicates a second order polynomial that is fitted to the black circles. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions


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