Journal article

Bayesian statistical methods for genetic association studies

M Stephens, DJ Balding

Nature Reviews Genetics | NATURE PUBLISHING GROUP | Published : 2009

Abstract

Bayesian statistical methods have recently made great inroads into many areas of science, and this advance is now extending to the assessment of association between genetic variants and disease or other phenotypes. We review these methods, focusing on single-SNP tests in genome-wide association studies. We discuss the advantages of the Bayesian approach over classical (frequentist) approaches in this setting and provide a tutorial on basic analysis steps, including practical guidelines for appropriate prior specification. We demonstrate the use of Bayesian methods for fine mapping in candidate regions, discuss meta-analyses and provide guidance for refereeing manuscripts that contain Bayesia..

View full abstract

University of Melbourne Researchers

Grants

Awarded by National Institutes of Health


Funding Acknowledgements

We thank C. Hoggart for providing R code to compute the normal- exponential- gamma probability density function and J. Wakefield for helpful discussions and critical reading of an early draft. We thank R. Krauss for access to the CRP genotype and phenotype data that we analysed here. We are also grateful to W. Astle, A. Ramasamy, L. Bottolo, L. Coin, P. O'Reilly and H. Eleftherohorinou for discussions. The authors' work is supported in part by National Institutes of Health grants HL084689 ( to M. S.) and EP/C533542 ( to D. J. B.).