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Chunk #9 — Methodological Considerations — Imputation and Population Reference Panels

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Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations.
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GWAS arrays genotype a portion of common variation. Genotype imputation is a cost-effective computational approach for inferring genotypes or genotype probabilities at variants that have not been directly genotyped on GWAS arrays, based on comparisons to genetic data from external reference samples. Imputation increases the number of markers available for association testing and can harmonize cohorts genotyped on different arrays for meta-analysis.