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Article

Systematic assessment of copy number variant detection via genome-wide SNP genotyping.

Nature genetics - 1 Oct 2008

Cooper Gregory M, Zerr Troy, Kidd Jeffrey M, Eichler Evan E, Nickerson Deborah A

Abstract excerpt

SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe coverage for a large fraction of CNVs. Despite this, in 9 samples we inferred 368 CNVs using...

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Identifiers

PMID: 18776910
DOI: 10.1038/ng.236
PMCID: PMC2759751

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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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