title: Chapter 11: Genome-wide association studies.
abstract: Genome-wide association studies (GWAS) have evolved over the last ten years into a powerful tool for investigating the genetic architecture of human disease. In this work, we review the key concepts underlying GWAS, including the architecture of common diseases, the structure of common human genetic variation, technologies for capturing genetic information, study designs, and the statistical methods used for data analysis. We also look forward to the future beyond GWAS.
authors.affiliation: Department of Biomedical Informatics, Center for Human Genetics Research, Vanderbilt University Medical School, Nashville, Tennessee, United States of America. william.s.bush@vanderbilt.edu
authors.forename: William S
authors.initials: WS
authors.lastname: Bush
authors.forename: Jason H
authors.initials: JH
authors.lastname: Moore
mesh_terms: D057286:Electronic Health Records; D008040:Genetic Linkage; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D010641:Phenotype