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Article

A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.

PLoS genetics - 3 Feb 2011

Gamazon Eric R, Nicolae Dan L, Cox Nancy J

Abstract excerpt

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 frequency-matched SNPs as trait-associated loci or as expression quantitative trait loci (eQTLs) influencing phenotype by...

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Share to Databases, Genetic
Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Oligonucleotide Array Sequence Analysis

Share to Polymorphism, Genetic

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Source

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Identifiers

PMID: 21304891
DOI: 10.1371/journal.pgen.1001292
PMCID: PMC3033384

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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