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Article

On the frequency of copy number variants.

Bioinformatics (Oxford, England) - 15 Oct 2008

Ionita-Laza Iuliana, Laird Nan M, Raby Benjamin A, Weiss Scott T, Lange Christoph

Abstract excerpt

MOTIVATION: Estimating the frequency distribution of copy number variants (CNVs) is an important aspect of the effort to characterize this new type of genetic variation. Currently, most studies report a strong skew toward low-frequency CNVs. In this article, our goal is to investigate the frequencies of CNVs. We employ a two-step procedure for the CNV frequency estimation process. We use family information a...

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Identifiers

PMID: 18689430
DOI: 10.1093/bioinformatics/btn421
PMCID: PMC2562008

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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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