Article
Accurate distinction of pathogenic from benign CNVs in mental retardation.
PLoS computational biology - 22 Apr 2010
Hehir-Kwa Jayne Y, Wieskamp Nienke, Webber Caleb, Pfundt Rolph, Brunner Han G, Gilissen Christian, de Vries Bert B A, Ponting Chris P, Veltman Joris A
Abstract excerpt
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 CNVs have been reported as a frequent cause of neurological disorders such as mental retardation (MR), schizophrenia...
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