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

Beckmann, J. S.
Sharp, A. J.
Published in Cytogenetic and genome research. 2008, vol. 123, no. 1-4, p. 7-16
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 DiscoveryGene Dosage/ geneticsGenetic Predisposition to DiseaseGenome/geneticsHumansPharmaceutical Preparations/ metabolismPolymorphism, Single Nucleotide/genetics
PMID: 19287134
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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 https://archive-ouverte.unige.ch/unige:8630

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Deposited on : 2010-07-12

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