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Chunk #20 — Design — Analysis methods

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Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts.
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When promising results from GWAS meta-analyses arise from SNPs that were imputed in some or all of the cohorts, genotyping the imputed markers in a sample of the existing cohort members serves to validate the imputation process. For the purpose of replication, genotyping high-signal SNPs in independent samples provides additional evidence about the presence or absence of an association. The number of SNPs and the number of independent individuals to be genotyped depend on the available resources and populations. Key follow-up efforts--resequencing high signal areas, fine mapping and functional studies--are likely to require new resources.