1. Pooled Association Tests for Rare Variants in Exon-Resequencing Studies 
Alkes L. Price, Gregory V. Kryukov, Paul I.W. de Bakker, Shaun M. Purcell, Jeff Staples, Lee-Jen Wei, Shamil R. Sunyaev 
The American Journal of Human Genetics 
Volume 86, Issue 6, Pages (June 2010)
DOI: /j.ajhg
Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2. Figure 1
Probability φ(p) that a Nonsynonymous Variant Is Functional as a Function of Allele Frequency p
Results are based on 10,000 independent simulations in which we vary the selection parameter s: s = 0.01 (log10s = −2), s = (log10s = −3), or s = (log10s = −4). We also plot the value φ(p) ∼1/p(1−p) (as implicitly assumed by the weighted approach). All probabilities are normalized by the corresponding probability for singleton mutations. Panels (A) and (B) are identical except for the different range of the allele frequency p, with panel (B) restricted to very rare alleles.
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2010 The American Society of Human Genetics Terms and Conditions