☆ 4.1 Review

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

CYTOGENETIC AND GENOME RESEARCH (2008)

期刊

CYTOGENETIC AND GENOME RESEARCH

卷 123, 期 1-4, 页码 7-16

出版社

KARGER

DOI: 10.1159/000184687

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Cell Biology Genetics & Heredity

资金

SNF (Swiss National Science Foundation)
University of Lausanne, Switzerland
European Union
US National Institutes of Health
Fondation Telethon Action Suisse
Lejeune and ChildCare Foundations (France)

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Reagent

摘要

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. Copyright (C) 2009 S. Karger AG, Basel

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