Genotype imputation for genome-wide association studies

作者: Jonathan Marchini , Bryan Howie

DOI: 10.1038/NRG2796

关键词:

摘要: 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 analysis GWA to boost power, fine-map and facilitate combination results across using meta-analysis. This Review describes details several different statistical methods imputing genotypes, illustrates discusses factors that influence performance, reviews can be assess performance test at imputed SNPs.

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