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Article

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.

BMC genomics - 15 Jun 2012

Valsesia Armand, Stevenson Brian J, Waterworth Dawn, Mooser Vincent, Vollenweider Peter, Waeber Gérard, Jongeneel C Victor, Beckmann Jacques S, Kutalik Zoltán, Bergmann Sven

Abstract excerpt

BACKGROUND: Genotypes obtained with commercial SNP arrays have been extensively used in many large case-control or population-based cohorts for SNP-based genome-wide association studies for a multitude of traits. Yet, these genotypes capture only a small fraction of the variance of the studied traits. Genomic structural variants (GSV) such as Copy Number Variation (CNV) may account for part of the missing...

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Identifiers

PMID: 22702538
DOI: 10.1186/1471-2164-13-241
PMCID: PMC3464625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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