Genome-wide association studies

Genome-wide association studies in humans have revealed dozens of disease-associated loci and have provided insights into the allelic architecture of complex traits. Along the way, much has been learned about how best to carry out such studies. The articles in this series examine these design issues and the technical challenges that remain; for example, identifying association signals and interpreting the molecular mechanisms by which they exert their biological functions.


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2013

July 2013 Volume 14 No 7

Pleiotropy in complex traits: challenges and strategies

Nadia Solovieff, Chris Cotsapas, Phil H. Lee, Shaun M. Purcell & Jordan W. Smoller

doi:10.1038/nrg3461

July 2013 Volume 14 No 7

Pitfalls of predicting complex traits from SNPs

Naomi R. Wray, Jian Yang, Ben J. Hayes, Alkes L. Price, Michael E. Goddard & Peter M. Visscher

doi:10.1038/nrg3457

June 2013 Volume 14 No 6

Meta-analysis methods for genome-wide association studies and beyond

Evangelos Evangelou & John P. A. Ioannidis

doi:10.1038/nrg3472

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2012

November 2012 Volume 13 No 11

Genome-wide association studies in mice

Jonathan Flint & Eleazar Eskin

doi:10.1038/nrg3335

March 2012 Volume 13 No 3

Human genetic susceptibility to infectious disease

Stephen J. Chapman & Adrian V. S. Hill

doi:10.1038/nrg3114

February 2012 Volume 13 No 2

Rare and common variants: twenty arguments

Greg Gibson

doi:10.1038/nrg3118

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2011

October 2011 Volume 12 No 10

Assessing and managing risk when sharing aggregate genetic variant data

David W. Craig, Robert M. Goor, Zhenyuan Wang, Justin Paschall, Jim Ostell, Michael Feolo, Stephen T. Sherry & Teri A. Manolio

doi:10.1038/nrg3067

July 2011 Volume 12 No 7

Family-based designs for genome-wide association studies

Jurg Ott, Yoichiro Kamatani & Mark Lathrop

doi:10.1038/nrg2989

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2010

December 2010 Volume 11 No 12

Analysing biological pathways in genome-wide association studies

Kai Wang, Mingyao Li & Hakon Hakonarson

doi:10.1038/nrg2884


Towards identifying genes underlying ecologically relevant traits in Arabidopsis thaliana

Joy Bergelson & Fabrice Roux

doi:10.1038/nrg2896

November 2010 Volume 11 No 11

Statistical analysis strategies for association studies involving rare variants

Vikas Bansal, Ondrej Libiger, Ali Torkamani & Nicholas J. Schork

doi:10.1038/nrg2867

July 2010 Volume 11 No 7

New approaches to population stratification in genome-wide association studies

Alkes L. Price, Noah A. Zaitlen, David Reich & Nick Patterson

doi:10.1038/nrg2813

Genotype imputation for genome-wide association studies

Jonathan Marchini & Bryan Howie

doi:10.1038/nrg2796

May 2010 Volume 11 No 5

Genome–wide association studies in diverse populations

Noah A. Rosenberg, Lucy Huang, Ethan M. Jewett, Zachary A. Szpiech, Ivana Jankovic & Michael Boehnke

doi:10.1038/nrg2760

Mendelian disorders and multifactorial traits: the big divide or one for all?

Stylianos E. Antonarakis, Aravinda Chakravarti, Jonathan C. Cohen & John Hardy

doi:10.1038/nrg2793

April 2010 Volume 11 No 4

Gene–environment-wide association studies: emerging approaches

Duncan Thomas

doi:10.1038/nrg2764

Genome-wide association studies in pharmacogenomics

Ann K. Daly

doi:10.1038/nrg2751

February 2010 Volume 11 No 2

Methodological challenges of genome-wide association analysis in Africa

Yik-Ying Teo, Kerrin S. Small & Dominic P. Kwiatkowski

doi:10.1038/nrg2731

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2009

December 2009 Volume 10 No 12

Common disorders are quantitative traits

Robert Plomin, Claire M. A. Haworth & Oliver S. P. Davis

doi:10.1038/nrg2670

October 2009 Volume 10 No 10

Bayesian statistical methods for genetic association studies

Matthew Stephens & David J. Balding

doi:10.1038/nrg2615

June 2009 Volume 10 No 6

Detecting gene–gene interactions that underlie human diseases

Heather J. Cordell

doi:10.1038/nrg2579

May 2009 Volume 10 No 5

Validating, augmenting and refining genome-wide association signals

John P. A. Ioannidis, Gilles Thomas & Mark J. Daly

doi:10.1038/nrg2544

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2008

May 2008 Volume 9 No 5

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Mark I. McCarthy, Gonçalo R. Abecasis, Lon R. Cardon, David B. Goldstein, Julian Little, John P. A. Ioannidis & Joel N. Hirschhorn

doi:10.1038/nrg2344