Article
Evolutionary evidence of the effect of rare variants on disease etiology.
Clinical genetics - 1 Mar 2011
Gorlov I P, Gorlova O Y, Frazier M L, Spitz M R, Amos C I
Abstract excerpt
The common disease/common variant hypothesis has been popular for describing the genetic architecture of common human diseases for several years. According to the originally stated hypothesis, one or a few common genetic variants with a large effect size control the risk of common diseases. A growing body of evidence, however, suggests that rare single-nucleotide polymorphisms (SNPs), i.e. those with a minor...
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