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Article

CNVs and genetic medicine (excitement and consequences of a rediscovery).

Cytogenetic and genome research - 1 Jan 2008

Beckmann J S, Sharp A J, Antonarakis S E

Abstract excerpt

The extensive variability of individual human genomes contributes to phenotypic variability. Structural genomic variants, and copy number variants (CNVs) in particular, have recently been rediscovered as contributors to the genomic plasticity and evolution and as pathoetiologic elements for both monogenic and complex traits. Herein we review some of the consequences of CNVs in the context of human inherited diseases.

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PMID: 19287134
DOI: 10.1159/000184687

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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