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Article

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

Nucleic acids research - 1 Jan 2007

Armour John A L, Palla Raquel, Zeeuwen Patrick L J M, den Heijer Martin, Schalkwijk Joost, Hollox Edward J

Abstract excerpt

Recent work has demonstrated an unexpected prevalence of copy number variation in the human genome, and has highlighted the part this variation may play in predisposition to common phenotypes. Some important genes vary in number over a high range (e.g. DEFB4, which commonly varies between two and seven copies), and have posed formidable technical challenges for accurate copy number typing, so that there are no...

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Identifiers

PMID: 17175532
DOI: 10.1093/nar/gkl1089
PMCID: PMC1807953

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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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