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Scientific article
English

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

Contributors

Beckmann, J. S.; Sharp, A. J.; Antonarakis, Stylianos

Published in

Cytogenetic and genome research, vol. 123, no. 1-4, p. 7-16

Publication date

2008

Abstract

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.

Keywords

  • Drug Discovery
  • Gene Dosage/ genetics
  • Genetic Predisposition to Disease
  • Genome/genetics
  • Humans
  • Pharmaceutical Preparations/ metabolism
  • Polymorphism, Single Nucleotide/genetics

UNIGE affiliation entities

Citation (ISO format)

BECKMANN, J. S., SHARP, A. J., ANTONARAKIS, Stylianos. CNVs and genetic medicine (excitement and consequences of a rediscovery). In: Cytogenetic and genome research, 2008, vol. 123, n° 1-4, p. 7–16. doi: 10.1159/000184687

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Additional URL for this publication

http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=000184687&Ausgabe=243504&ProduktNr=224037&filename=000184687.pdf

Journal ISSN

1424-8581
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Technical informations

Creation

12/07/2010 11:57:00

First validation

12/07/2010 11:57:00

Update

14/03/2023 15:50:06

Status update

14/03/2023 15:50:06

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