Nature Reviews Genetics 10, 681-690 (October 2009) | doi:10.1038/nrg2615

Article series: Modelling

Bayesian statistical methods for genetic association studies

Matthew Stephens1 & David J. Balding2,3  About the authors


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 Bayesian analyses.

Author affiliations

  1. Departments of Statistics and Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
  2. Department of Epidemiology and Public Health, Imperial College, St Mary's Campus, Norfolk Place, London W2 1PG, UK.
  3. Current address: Institute of Genetics, University College London, London WC1E 6BT, UK.
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