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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.

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

1 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 (November 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions

2 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  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions


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