Review

Nature Reviews Genetics 11, 499-511 (July 2010) | doi:10.1038/nrg2796

Article series: Genome-wide association studies

Genotype imputation for genome-wide association studies

Jonathan Marchini1 & Bryan Howie2  About the authors

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In the past few years genome-wide association (GWA) studies have uncovered a large number of convincingly replicated associations for many complex human diseases. Genotype imputation has been used widely in the analysis of GWA studies to boost power, fine-map associations and facilitate the combination of results across studies using meta-analysis. This Review describes the details of several different statistical methods for imputing genotypes, illustrates and discusses the factors that influence imputation performance, and reviews methods that can be used to assess imputation performance and test association at imputed SNPs.

Author affiliations

  1. Department of Statistics, University of Oxford, Oxford, UK.
  2. Department of Human Genetics, University of Chicago, Chicago, USA.

Correspondence to: Jonathan Marchini1 Email: marchini@stats.ox.ac.uk

Published online 2 June 2010

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