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Figure 1 | Genome Medicine

Figure 1

From: Understanding complex traits: from farmers to pharmas

Figure 1

The relationship between frequency and effect size, and the lack of intermediate frequency associations. The points show minor allele frequency (x-axis) and effect size (y-axis) for each of 146 replicated associations for human height. The amount of variance each association explains is approximately equal to the product of its frequency and effect size. The central diagonal band represents the region where causal variants are most likely to be found. Assuming selection acts to limit the variance explained by any single variant, this would imply there are few associations in the red shaded region. Conversely, with standard samples sizes, studies will be underpowered to detect associations in the blue region, as these only explain a minute proportion of variance. Within the diagonal band, linkage studies are best suited for detecting rare variants of strong effect (area A), while association studies are well equipped for finding common variants (area B), meaning that the intermediate range remains poorly investigated. This figure was generated using data from the following publications: Lango Allen et al.: Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010, 467:832-838; Kemper et al.: Genetic architecture of body size in mammals. Genome Biol 2012, 13:244.

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