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 frequen...

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Bibliographic Details
Main Authors: Eric R Gamazon, Dan L Nicolae, Nancy J Cox
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-02-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3033384?pdf=render