Genome-Wide Association Studies

  • Abbas DehghanEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 1793)


Genetic association studies have made a major contribution to our understanding of the genetics of complex disorders over the last 10 years through genome-wide association studies (GWAS). In this chapter, we review the key concepts that underlie the GWAS approach. We will describe the “common disease, common variant” theory, and will review how we finally afforded to capture the common variance in genome to make GWAS possible. Finally, we will go over technical aspects of GWAS such as genotype imputation, epidemiologic designs, analysis methods, and considerations such as genomic inflation, multiple testing, and replication.

Key words

Genome-wide association studies Genetic association Genotype imputation Linkage disequilibrium 


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Epidemiology and BiostatisticsImperial College LondonLondonUK

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