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

Nat Rev Genet. 2013 Jun;14(6):379-89. doi: 10.1038/nrg3472. Epub 2013 May 9.


Meta-analysis of genome-wide association studies (GWASs) has become a popular method for discovering genetic risk variants. Here, we overview both widely applied and newer statistical methods for GWAS meta-analysis, including issues of interpretation and assessment of sources of heterogeneity. We also discuss extensions of these meta-analysis methods to complex data. Where possible, we provide guidelines for researchers who are planning to use these methods. Furthermore, we address special issues that may arise for meta-analysis of sequencing data and rare variants. Finally, we discuss challenges and solutions surrounding the goals of making meta-analysis data publicly available and building powerful consortia.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bayes Theorem
  • Data Interpretation, Statistical
  • Genetic Heterogeneity
  • Genome-Wide Association Study / methods*
  • Humans
  • Meta-Analysis as Topic*
  • Phenotype
  • Software