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Genome-wide association studies for complex traits: consensus, uncertainty and challenges

McCarthy, Mark I., Abecasis, Gonçalo R., Cardon, Lon R., Goldstein, David B., Little, Julian, Ioannidis, John P. A., Hirschhorn, Joel N.·2008·Nature Reviews Genetics

DOI 10.1038/nrg2344

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Abstract

The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.

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Authors: McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N.
Affiliations: Centre for Human Genetics (GB)
University of Michigan (US)
Duke University (US)
University of Ottawa (CA)
Tufts University (US)
Broad Institute (US)
Corresponding author: McCarthy, Mark I.
ORCID: McCarthy, Mark I.
Abecasis, Gonçalo R.
Goldstein, David B.
Little, Julian
Ioannidis, John P. A.
Hirschhorn, Joel N.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2008-05
Volume: 9
Issue: 5
Pages: 356-369
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2344
OpenAlex: W2041467022
Cited by: 2,891
References: 128
Citations by year: 2026: 38 · 2025: 57 · 2024: 90 · 2023: 68 · 2022: 61 · 2021: 85 · 2020: 94 · 2019: 129 · 2018: 127 · 2017: 160 · 2016: 170 · 2015: 171 · 2014: 200 · 2013: 235 · 2012: 257
FWCI: 29.53
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
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, complex traits, disease susceptibility loci, multifactorial traits, common diseases, genetic basis of disease, clinical translation
MeSH terms: Alleles, Animals, Humans, Genetic Variation, Genome, Human, Quantitative Trait, Heritable, Genetic Predisposition to Disease, Genetic Diseases, Inborn, Quantitative Trait Loci

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Genome-wide association studies for complex traits: consensus, uncertainty and challenges

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