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PMID: 20517342 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Review

Genotype imputation for genome-wide association studies.

Nature reviews. Genetics ·Vol. 11 ·No. 7 ·2010-07-00 ·Pages 499-511

Marchini J, Howie B

Abstract

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.

MeSH Terms
Biostatistics/methods Genome-Wide Association Study Genotype Models, Genetic Polymorphism, Single Nucleotide
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Marchini Jonathan
Department of Statistics, University of Oxford, Oxford, UK. marchini@stats.ox.ac.uk
Howie Bryan
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Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0064
DOI
10.1038/nrg2796
Email
marchini@stats.ox.ac.uk
Published
2010-07-00
Pages
499-511
Language
English
Region
England
NLM ID
100962779
Subset
IM
Grants
Medical Research Council · G0801823 · United Kingdom
External Links
PubMed source DOI: 10.1038/nrg2796 View journal details
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