A Study of CNVs As Trait-Associated Polymorphisms and As Expression Quantitative Trait Loci

Eric R. Gamazon; Dan L. Nicolae; Nancy J. Cox

doi:10.1371/journal.pgen.1001292

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Open Access

Peer-reviewed

Research Article

A Study of CNVs As Trait-Associated Polymorphisms and As Expression Quantitative Trait Loci

Eric R. Gamazon,

Affiliation Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, United States of America
⨯
Dan L. Nicolae,

Affiliations Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, United States of America, Department of Statistics, University of Chicago, Chicago, Illinois, United States of America
⨯
Nancy J. Cox

* E-mail: ncox@bsd.uchicago.edu

Affiliation Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, United States of America
⨯

A Study of CNVs As Trait-Associated Polymorphisms and As Expression Quantitative Trait Loci

Eric R. Gamazon,
Dan L. Nicolae,
Nancy J. Cox

Published: February 3, 2011
https://doi.org/10.1371/journal.pgen.1001292

About the Authors

Eric R. Gamazon

Affiliation Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, United States of America

Dan L. Nicolae

Affiliations Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, United States of America, Department of Statistics, University of Chicago, Chicago, Illinois, United States of America

Nancy J. Cox

* E-mail: ncox@bsd.uchicago.edu

Affiliation Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: ERG DLN NJC. Performed the experiments: ERG. Analyzed the data: ERG DLN NJC. Contributed reagents/materials/analysis tools: ERG. Wrote the paper: ERG DLN NJC.

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Single nucleotide polymorphisms
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Gene expression
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Complex traits
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Genome-wide association studies
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Disease susceptibility
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Gene regulation
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Phenotypes
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Genetics of disease
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