title: CNVs and genetic medicine (excitement and consequences of a rediscovery).
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.
authors.affiliation: Service and Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne (Switzerland).
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: A J
authors.initials: AJ
authors.lastname: Sharp
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D055808:Drug Discovery; D018628:Gene Dosage / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D016678:Genome / Q000235:genetics; D006801:Humans; D004364:Pharmaceutical Preparations / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D004364:Pharmaceutical Preparations