Introduction to genetic association studies

Cold Spring Harb Protoc. 2012 Mar 1;2012(3):297-306. doi: 10.1101/pdb.top068163.


Genetic association studies are used to find candidate genes or genome regions that contribute to a specific disease by testing for a correlation between disease status and genetic variation. This article provides a broad outline of the design and analysis of such studies, focusing on case-control studies in candidate genes or regions.

Publication types

  • Review

MeSH terms

  • Case-Control Studies
  • Genetic Association Studies / methods*
  • Genetic Predisposition to Disease*
  • Humans