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Chunk #7 — Methods — Reference Haplotype Panels

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Assessment of genotype imputation performance using 1000 Genomes in African American studies.
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The second 1000 Genomes reference panel, having eight populations of African (AFR) or European (EUR) descent, was chosen as a broader match for African Americans. The combined AFR+EUR panel included YRI, CEU, ASW, as well as Kenyans (LWK, N = 97), Finns (FIN, N = 93), Britons (GBR, N = 89), Spaniards (IBS, N = 14), and Italians (TSI, N = 98). Additional comparisons of the YRI+CEU+ASW and AFR+EUR reference panels were made using HapMap phase III (http://hapmap.ncbi.nlm.nih.gov/downloads/phasing/2009-02_phaseIII/HapMap3_r2, accessed January 25, 2011) and the August 2010 release of 1000 Genomes (ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20100804/, accessed June 17, 2011), as shown in Figures S3, S4, S5.