articlePLoS GeneticsJun 18, 2009GOLD OA

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

University of Oxford · Centre for Human Genetics

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Abstract

Genotype imputation methods are now being widely used in the analysis of genome-wide association studies. Most imputation analyses to date have used the HapMap as a reference dataset, but new reference panels (such as controls genotyped on multiple SNP chips and densely typed samples from the 1,000 Genomes Project) will soon allow a broader range of SNPs to be imputed with higher accuracy, thereby increasing power. We describe a genotype imputation method (IMPUTE version 2) that is designed to address the challenges presented by these new datasets. The main innovation of our approach is a flexible modelling framework that increases accuracy and combines information across multiple reference panels while…

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Authors

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Topics & keywords

Keywords
  • International HapMap Project
  • Imputation (statistics)
  • Genome-wide association study
  • 1000 Genomes Project
  • Genetic association
  • Single-nucleotide polymorphism
  • Computer science
  • Data mining
UN Sustainable Development Goals
  • Industry, innovation and infrastructure
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