Calculation and use of the Hardy-Weinberg model in association studies

Current Protocols in Human Genetics
Kelli K Ryckman, Scott M Williams

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.

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Citations

Nov 13, 2009·Carcinogenesis·Charles C ChungStephen J Chanock
Nov 2, 2019·International Journal of Rheumatic Diseases·Shutao GaoWeibin Sheng
May 8, 2018·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Jun DaiAn-Min Chen
Jul 1, 2021·Revista brasileira de psiquiatria : orgão oficial da Associação Brasileira de Psiquiatria, Asociación Psiquiátrica de la América Latina·Rodrigo FerretjansJoão V Salgado

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