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

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Presentation on theme: "Yu Jiang, Yujun Han, Slavé Petrovski, Kouros Owzar, David B"— Presentation transcript:

1 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 (August 2015) DOI: /j.ajhg Copyright © 2015 The American Society of Human Genetics Terms and Conditions

2 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  , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

3 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  , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Schematic Representation of TRIO
The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions


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