Chapter 11: Genome-Wide Association Studies |
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| Authors: | William S. Bush Jason H. Moore |
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| Affiliation: | 1.Department of Biomedical Informatics, Center for Human Genetics Research, Vanderbilt University Medical School, Nashville, Tennessee, United States of America;2.Departments of Genetics and Community Family Medicine, Institute for Quantitative Biomedical Sciences, Dartmouth Medical School, Lebanon, New Hampshire, United States of America;Whitehead Institute, United States of America;University of Maryland, Baltimore County, United States of America |
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| 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.What to Learn in This Chapter- Basic genetic concepts that drive genome-wide association studies
- Genotyping technologies and common study designs
- Statistical concepts for GWAS analysis
- Replication, interpretation, and follow-up of association results
This article is part of the “Translational Bioinformatics” collection for PLOS Computational Biology. |
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