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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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2010
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Acceso en línea:https://doaj.org/article/b1e8eb218cdc4f14be97291e55b4e2e5
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