Accurate distinction of pathogenic from benign CNVs in mental retardation.

Accurate distinction of pathogenic from benign CNVs in mental retardation.

Copy number variants (CNVs) have recently been recognized as a common form of genomic variation in humans. Hundreds of CNVs can be detected in any individual genome using genomic microarrays or whole genome sequencing technology, but their phenotypic consequences are still poorly understood. Rare CN...

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Bibliographic Details
Main Authors: Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-04-01
Series:PLoS Computational Biology
Online Access:https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1000752&type=printable
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