Journal
NATURE REVIEWS GENETICS
Volume 13, Issue 2, Pages 135-145Publisher
NATURE PORTFOLIO
DOI: 10.1038/nrg3118
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- Georgia Institute of Technology
- US National Institutes of Health
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Genome-wide association studies have greatly improved our understanding of the genetic basis of disease risk. The fact that they tend not to identify more than a fraction of the specific causal loci has led to divergence of opinion over whether most of the variance is hidden as numerous rare variants of large effect or as common variants of very small effect. Here I review 20 arguments for and against each of these models of the genetic basis of complex traits and conclude that both classes of effect can be readily reconciled.
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