Imputation of Exome Sequence Variants into Population- Based Samples and Blood- Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing.

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Imputation of Exome Sequence Variants into Population- Based Samples and Blood- Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project Paul L. Auer, Jill M. Johnsen, Andrew D. Johnson, Benjamin A. Logsdon, Leslie A. Lange, Michael A. Nalls, Guosheng Zhang, Nora Franceschini, Keolu Fox, Ethan M. Lange, Stephen S. Rich, Christopher J. O’Donnell, Rebecca D. Jackson, Robert B. Wallace, Zhao Chen, Timothy A. Graubert, James G. Wilson, Hua Tang, Guillaume Lettre, Alex P. Reiner, Santhi K. Ganesh, Yun Li The American Journal of Human Genetics Volume 91, Issue 5, Pages 794-808 (November 2012) DOI: 10.1016/j.ajhg.2012.08.031 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Regional Plots of Genetic Loci Associated with Blood Cell Traits Shown are regional association plots generated with LocusZoom for (A) the chromosome 16 α-globin locus and hemoglobin; (B) the chromosome 2 LCT region and WBC; (C) MPL on chromosome 1 and platelet count; and (D) the CD36 locus on chromosome 7 and platelet count. The color of each single-nucleotide variant (SNV) indicates the level of pairwise linkage disequilibrium (LD) based on r-squared relative to the lead SNV in the region. r-squared values were calculated from 1000 Genomes YRI. SNVs with missing LD information are shown in gray. Included in these plots are either SNVs that were imputed from exome sequence data or any regional SNVs that were genotyped with the Affymetrix 6.0 array. The American Journal of Human Genetics 2012 91, 794-808DOI: (10.1016/j.ajhg.2012.08.031) Copyright © 2012 The American Society of Human Genetics Terms and Conditions