| Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. | |
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MedLine Citation:
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PMID: 17637735 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Jacques S Beckmann; Xavier Estivill; Stylianos E Antonarakis |
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Publication Detail:
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Type: Historical Article; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Nature reviews. Genetics Volume: 8 ISSN: 1471-0056 ISO Abbreviation: Nat. Rev. Genet. Publication Date: 2007 Aug |
Date Detail:
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Created Date: 2007-07-19 Completed Date: 2007-09-26 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 100962779 Medline TA: Nat Rev Genet Country: England |
Other Details:
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Languages: eng Pagination: 639-46 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, University of Lausanne and Centre Hospitalier Universitaire Vaudois, 2 Avenue Pierre Decker, 1011 Lausanne, Switzerland. Jacques.Beckmann@chuv.ch |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Gene Dosage* Genes, Dominant Genetic Diseases, Inborn / genetics Genetic Variation* Genome, Human* Genomics / history Genotype History, 20th Century History, 21st Century Humans Male Penetrance Phenotype Polymorphism, Single Nucleotide Trisomy |
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