The Population Reference Sample, POPRES: A Resource for Population, Disease, and Pharmacological Genetics Research Matthew R. Nelson, Katarzyna Bryc,

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The Population Reference Sample, POPRES: A Resource for Population, Disease, and Pharmacological Genetics Research Matthew R. Nelson, Katarzyna Bryc, Karen S. King, Amit Indap, Adam R. Boyko, John Novembre, Linda P. Briley, Yuka Maruyama, Dawn M. Waterworth, Gérard Waeber, Peter Vollenweider, Jorge R. Oksenberg, Stephen L. Hauser, Heide A. Stirnadel, Jaspal S. Kooner, John C. Chambers, Brendan Jones, Vincent Mooser, Carlos D. Bustamante, Allen D. Roses, Daniel K. Burns, Margaret G. Ehm, Eric H. Lai The American Journal of Human Genetics Volume 83, Issue 3, Pages 347-358 (September 2008) DOI: 10.1016/j.ajhg.2008.08.005 Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 1 Distribution of Minor-Allele Frequency by Collection Colors and line types for the densities of each collection are shown within the figure. The American Journal of Human Genetics 2008 83, 347-358DOI: (10.1016/j.ajhg.2008.08.005) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 2 Genetic Structure Illustrated through Scatter Plots of Consecutive Principal Components Subject scores are colored by continental and/or ethnic origin (see legend). East Asian populations are indicated by varying point types. Percent of variation explained by each component is given in parentheses on each axis label. The American Journal of Human Genetics 2008 83, 347-358DOI: (10.1016/j.ajhg.2008.08.005) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 3 Distribution of Subject-Level Principal Component 5 Scores by Reported Ancestry Each box and whisker indicates the median (heavy line), interquartile range (IQR, box), and minimum and maximum observations (whiskers). Whiskers are truncated at the last observation within 1.5 times the IQR from the edge of the box, with outliers shown individually. Plots for the remaining principal components are available in Figure S2, available online. The American Journal of Human Genetics 2008 83, 347-358DOI: (10.1016/j.ajhg.2008.08.005) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 4 P-Plot Comparing Observed versus Expected Proportion of Associations over a Range of Significance Thresholds Separate lines are presented for each of the four control matching strategies. Results of the allelic exact test are shown on the left and genotypic exact tests on the right. A light gray line corresponds to unity. The American Journal of Human Genetics 2008 83, 347-358DOI: (10.1016/j.ajhg.2008.08.005) Copyright © 2008 The American Society of Human Genetics Terms and Conditions