review Open AccessTop 1% cited
Chapter 11: Genome-Wide Association Studies
PLoS Computational Biology · 2012 · Vol. 8(12) · pp. e1002822–e1002822
William S. Bush✉(Vanderbilt University Medical Center)Jason H. Moore
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.
Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGene expression and cancer classificationGenome-wide association studyGenetic associationGenetic architectureComputational biologyGenomeData scienceBiologyComputer scienceGeneticsSingle-nucleotide polymorphism
MeSH terms
HaplotypesHumansGenetic LinkagePhenotypeGenetic VariationGenome-Wide Association StudyElectronic Health Records
Funding
- National Institutes of Health
- National Human Genome Research Institute
- National Cancer Institute
Citations
1,207
FWCI
33.70
field-weighted impact
References
61
Percentile
100%
vs. same field & year
Citations per year
Cited by
Benefits and limitations of genome-wide association studies
Nature Reviews Genetics · 2019 · 2,137 citations
References
Principles of Population Genetics.
Biometrics · 1990 · 5,349 citations
A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies
PLoS Genetics · 2009 · 4,126 citations
Gene Dose of Apolipoprotein E Type 4 Allele and the Risk of Alzheimer's Disease in Late Onset Families
Science · 1993 · 9,373 citations
A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals
The American Journal of Human Genetics · 2009 · 1,695 citations
Genome-wide association studies for common diseases and complex traits
Nature Reviews Genetics · 2005 · 2,867 citations
On the allelic spectrum of human disease
Trends in Genetics · 2001 · 1,186 citations
Diagnostic criteria for multiple sclerosis: 2010 Revisions to the McDonald criteria
Annals of Neurology · 2011 · 9,766 citations
More powerful procedures for multiple significance testing
Statistics in Medicine · 1990 · 2,782 citations
Citation Network
How this paper connects to the literature. Drag to explore, click any node to open that paper.