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

J. S. Beckmann, A. J. Sharp, S. E. Antonarakis

Research output: Contribution to journalReview articlepeer-review

16 Scopus citations


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.

Original languageEnglish
Pages (from-to)7-16
Number of pages10
JournalCytogenetic and Genome Research
Issue number1-4
StatePublished - Mar 2009
Externally publishedYes


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