Yu Jiang, Yujun Han, Slavé Petrovski, Kouros Owzar, David B

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Incorporating Functional Information in Tests of Excess De Novo Mutational Load Yu Jiang, Yujun Han, Slavé Petrovski, Kouros Owzar, David B. Goldstein, Andrew S. Allen The American Journal of Human Genetics Volume 97, Issue 2, Pages 272-283 (August 2015) DOI: 10.1016/j.ajhg.2015.06.013 Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 1 Relative Errors of Saddlepoint Approximation Relative error =(pemp−pest)/min(pemp,pest), where pemp is the p value estimated from a simulation with 108 replicates and pest is the p value estimated by saddlepoint approximation. The American Journal of Human Genetics 2015 97, 272-283DOI: (10.1016/j.ajhg.2015.06.013) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 2 The Power of fitDNM when Variant Deleteriousness Is Misspecified The left panel is the ROC curve for different deleterious predictions, and the right panel is the statistical power for corresponding misspecified deleteriousness. The dashed horizontal line indicates the power for the Poisson test. The American Journal of Human Genetics 2015 97, 272-283DOI: (10.1016/j.ajhg.2015.06.013) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 3 Schematic Representation of TRIO The American Journal of Human Genetics 2015 97, 272-283DOI: (10.1016/j.ajhg.2015.06.013) Copyright © 2015 The American Society of Human Genetics Terms and Conditions