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...

Full description

Saved in:
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:EN
Published: Public Library of Science (PLoS) 2010
Subjects:
Online Access:https://doaj.org/article/b1e8eb218cdc4f14be97291e55b4e2e5
Tags: Add Tag
No Tags, Be the first to tag this record!