Rare and common variants: twenty arguments.

06:00 EST 19th January 2012 | BioPortfolio

Summary of "Rare and common variants: twenty arguments."

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.


School of Biology and Center for Integrative Genomics, 770 State Street, Georgia Institute of Technology, Atlanta, Georgia 30332, USA.

Journal Details

This article was published in the following journal.

Name: Nature reviews. Genetics
ISSN: 1471-0064
Pages: 135-45


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Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

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