Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Rev Genet. 2012 Jan 18;13(2):135-45. doi: 10.1038/nrg3118.

Rare and common variants: twenty arguments.

Author information

1
School of Biology and Center for Integrative Genomics, 770 State Street, Georgia Institute of Technology, Atlanta, Georgia 30332, USA. greg.gibson@biology. gatech.edu

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.

PMID:
22251874
PMCID:
PMC4408201
DOI:
10.1038/nrg3118
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group Icon for PubMed Central
    Loading ...
    Support Center