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Cited by 1,171Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

Chapter 11: Genome-wide association studies

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Bush, William S., Moore, Jason H.·2012·PLoS Computational Biology
DOI 10.1371/journal.pcbi.1002822PMC PMC3531285
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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.

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  • Rare variants such as apoE4[L28P] are seldom found by initial genome-wide association studies, primarily because of their low representation in the cohort, and require resequencing of large populations or targeted family-based studies and linkage analysis to be identified.

    “Rare variants, like apoE4[L28P], although equally important as common variants for disease pathogenesis, are seldom found by initial genome-wide association studies, primarily because of the low representation in the cohort, and require resequencing of large populations or targeted family-based studies and linkage analysis to be identified (51,52).”

    From Molecular Basis for Increased Risk for Late-onset Alzheimer Disease Due to the Naturally Occurring L28P Mutation in Apolipoprotein E4 (2014) · cites this paper as [51]

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Cited by

Sorted by citations

Authors
Bush, W. S., & Moore, J. H.
Affiliations
  • Vanderbilt University (US)
  • Dartmouth College (US)
Corresponding author
Bush, William S.
ORCID
Venue
PLoS Computational Biology
Publisher
Public Library of Science (PLoS)
Published
2012-12-27
Volume
8
Issue
12
Pages
e1002822
ISSN
  • 1553-734X (ISSN-L)
  • 1553-7358
DOI
10.1371/journal.pcbi.1002822
PMC
PMC3531285
OpenAlex
W2104093114
Cited by
1,171
References
10
Citations by year
2026: 39 · 2025: 51 · 2024: 60 · 2023: 82 · 2022: 83 · 2021: 131 · 2020: 132 · 2019: 138 · 2018: 112 · 2017: 94 · 2016: 89 · 2015: 76 · 2014: 54 · 2013: 29 · 2012: 1
FWCI
6.21
Type
journal article
Language
en
Open access
Licence
Locations
  • PLoS Computational Biology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • National Institutes of Health
  • National Human Genome Research Institute
  • National Eye Institute (R01EY022300)
  • National Cancer Institute (LM010098)
  • National Institute of General Medical Sciences (P20GM103534)
  • National Institute of Allergy and Infectious Diseases (R0I-AI59694, R01AI059694)
  • U.S. National Library of Medicine (R01LM011360, R0I-LM010098, R01LM009012, R01LM010098, R0I-LM009012)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Keywords
genome-wide association study, human genetic variation
MeSH terms
Haplotypes, Humans, Genetic Linkage, Phenotype, Genetic Variation, Genome-Wide Association Study, Electronic Health Records

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