Calculation and Use of the Hardy‐Weinberg Model in Association Studies

Kelli Ryckman1, Scott M. Williams1

1 Vanderbilt University, Nashville, Tennessee
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 1.18
DOI:  10.1002/0471142905.hg0118s57
Online Posting Date:  April, 2008
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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

     
 
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Table of Contents

  • Introduction
  • Basic Assumptions and Priniciples of HWE
  • Violating the Assumptions of HWE
  • Testing for HWE
  • Current Applications of HWE in Human Genetics
  • Analyzing Data
  • Summary
  • Literature Cited
  • Figures
     
 
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Materials

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Literature Cited

Literature Cited
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