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      Rare and common variants: twenty arguments

      Nature Reviews Genetics
      Springer Nature

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          Abstract

          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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          Author and article information

          Journal
          Nature Reviews Genetics
          Nat Rev Genet
          Springer Nature
          1471-0056
          1471-0064
          January 18 2012
          January 18 2012
          : 13
          : 2
          : 135-145
          Article
          10.1038/nrg3118
          4030f3ce-bd01-44f3-8993-cee0cdc7cb75
          © 2012
          History

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