Abstract

A considerable and unanticipated plasticity of the human genome, manifested as inter-individual copy number variation, has been discovered. These structural changes constitute a major source of inter-individual genetic variation that could explain variable penetrance of inherited (Mendelian and polygenic) diseases and variation in the phenotypic expression of aneuploidies and sporadic traits, and might represent a major factor in the aetiology of complex, multifactorial traits. For these reasons, an effort should be made to discover all common and rare copy number variants (CNVs) in the human population. This will also enable systematic exploration of both SNPs and CNVs in association studies to identify the genomic contributors to the common disorders and complex traits.

Author affiliations

1. Jacques S. Beckmann is at the Department of Medical Genetics, University of Lausanne and Centre Hospitalier Universitaire Vaudois, 2 Avenue Pierre Decker, 1011 Lausanne, Switzerland.
2. Xavier Estivill is at the Genes and Disease Program, Center for Genomic Regulation (CRG), National Genotyping Center (CeGen), CIBERESP and Pompeu Fabra University (UPF), Charles Darwin s/n, PRBB building, E-08003 Barcelona, Catalonia, Spain.
3. Stylianos E. Antonarakis is at the Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospital of Geneva, 1 rue Michel-Servet, 1211 Geneva, Switzerland.

Correspondence to: Jacques S. Beckmann¹ Email: Jacques.Beckmann@chuv.ch

Correspondence to: Xavier Estivill² Email: Xavier.Estivill@crg.es

Correspondence to: Stylianos E. Antonarakis³ Email: Stylianos.Antonarakis@medecine.unige.ch

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