Rare variant association analysis methods for complex traits

Annu Rev Genet. 2010;44:293-308. doi: 10.1146/annurev-genet-102209-163421.


There has been increasing interest in rare variants and their association with disease, and several rare variant-disease associations have already been detected. The usual association tests for common variants are underpowered for detecting variants of lower frequency, so alternative approaches are required. In addition to reviewing the association analysis methods for rare variants, we discuss the limitations of genome-wide association studies in identifying rare variants and the problems that arise in the imputation of rare variants.

Publication types

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

MeSH terms

  • Animals
  • Disease / genetics*
  • Genetic Association Studies / methods*
  • Genome-Wide Association Study / methods
  • Humans
  • Mutation*