Unit

UNIT 1.18 Calculation and Use of the Hardy-Weinberg Model in Association Studies

  1. Kelli Ryckman,
  2. Scott M. Williams

Published Online: 1 APR 2008

DOI: 10.1002/0471142905.hg0118s57

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Ryckman, K. and Williams, S. M. 2008. Calculation and Use of the Hardy-Weinberg Model in Association Studies. Current Protocols in Human Genetics. 57:1.18:1.18.1–1.18.11.

Author Information

  1. Vanderbilt University, Nashville, Tennessee

Publication History

  1. Published Online: 1 APR 2008
  2. Published Print: APR 2008

Abstract

Hardy-Weinberg equilibrium (HWE) is an important tool for understanding population structure. If certain assumptions are met, genotype and allele frequencies can be estimated from one generation to the next. In genetic association studies, HWE principles have been applied to detect genotyping error and disease susceptibility loci. The focus of this unit is to review the key principles and assumptions of HWE. There is a brief discussion on how the significance of HWE is tested, and a review of current applications of HWE in association studies. The applications discussed include estimating penetrance, evaluating genotyping errors, testing for population stratification, and testing for association. Curr. Protoc. Hum. Genet. 57:1.18.1-1.18.11. © 2008 by John Wiley & Sons, Inc.

Keywords:

  • Hardy-Weinberg equilibrium;
  • genetic association;
  • genotyping;
  • population structure;
  • penetrance