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

J. S. Beckmann; A. J. Sharp; S. E. Antonarakis

doi:10.1159/000184687

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

J. S. Beckmann, A. J. Sharp, S. E. Antonarakis

Research output: Contribution to journal › Review article › peer-review

16 Scopus citations

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.

Original language	English
Pages (from-to)	7-16
Number of pages	10
Journal	Cytogenetic and Genome Research
Volume	123
Issue number	1-4
DOIs	https://doi.org/10.1159/000184687
State	Published - Mar 2009
Externally published	Yes

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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.",

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AU - Antonarakis, S. E.

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N2 - 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.

AB - 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.

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U2 - 10.1159/000184687

DO - 10.1159/000184687

M3 - Review article

C2 - 19287134

AN - SCOPUS:62549127354

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SP - 7

EP - 16

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

IS - 1-4

ER -

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

Abstract

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