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Chunk #10 — Population Genetics of Synthetic Associations

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Synthetic associations are unlikely to account for many common disease genome-wide association signals.
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supporting the hypothesis that the causal mutations are, in fact, common [30]–[32]. Some population-specific GWAS signals do exist [6], but caution is required in the interpretation of small-scale, population-specific replication studies of loci originally identified in meta-analyses involving thousands of samples. Larger sample sizes from populations around the world are needed to resolve the fraction of GWAS hits that are population-specific.