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Article

A robust statistical method for case-control association testing with copy number variation.

Nature genetics - 1 Oct 2008

Barnes Chris, Plagnol Vincent, Fitzgerald Tomas, Redon Richard, Marchini Jonathan, Clayton David, Hurles Matthew E

Abstract excerpt

Copy number variation (CNV) is pervasive in the human genome and can play a causal role in genetic diseases. The functional impact of CNV cannot be fully captured through linkage disequilibrium with SNPs. These observations motivate the development of statistical methods for performing direct CNV association studies. We show through simulation that current tests for CNV association are prone to false-positive...

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Identifiers

PMID: 18776912
DOI: 10.1038/ng.206
PMCID: PMC2784596

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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