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

We conducted a comprehensive study of copy number variants (CNVs) well-tagged by SNPs (r(2)≥0.8) by analyzing their effect on gene expression and their association with disease susceptibility and other complex human traits. We tested whether these CNVs were more likely to be functional than frequenc...

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Autors principals: Gamazon, Eric R., Nicolae, Dan L., Cox, Nancy J.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3033384/
https://ncbi.nlm.nih.gov/pubmed/21304891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1001292
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