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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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Detalles Bibliográficos
Autores principales: Gamazon, Eric R., Nicolae, Dan L., Cox, Nancy J.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033384/
https://www.ncbi.nlm.nih.gov/pubmed/21304891
http://dx.doi.org/10.1371/journal.pgen.1001292