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Figure 1 | Genome Medicine

Figure 1

From: Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations

Figure 1

Fine-mapping of candidate causal or functional SNPs by transethnic GWAS. The graph shows the results of association testing (in the form of the allele frequencies) for a typical locus in three different populations. In the EUR population, many SNPs in the region are in close LD, leading to a significant signal for a wide set of SNPs. However, LD patterns in the ASN population are different, which enables finer mapping of the causal SNP as being the SNP with the strongest trait association. However, it is rarely obvious in advance which additional populations should be studied, as in some populations (such as AFR in this example) the locus might not be associated with the trait at all, because of epistatic interactions, phenotype heterogeneity, or low minor allele frequency/non-polymorphic markers across the locus. Data shown are based on simulation and do not reflect the result of any published or unpublished studies. Abbreviations: ASN, Asian; AFR, African; EUR, European.

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