Journal article

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.

Soumya Raychaudhuri, Joshua M Korn, Steven A McCarroll, undefined International Schizophrenia Consortium, David Altshuler, Pamela Sklar, Shaun Purcell, Mark J Daly

PLoS Genetics | Published : 2010


Investigators have linked rare copy number variation (CNVs) to neuropsychiatric diseases, such as schizophrenia. One hypothesis is that CNV events cause disease by affecting genes with specific brain functions. Under these circumstances, we expect that CNV events in cases should impact brain-function genes more frequently than those events in controls. Previous publications have applied "pathway" analyses to genes within neuropsychiatric case CNVs to show enrichment for brain-functions. While such analyses have been suggestive, they often have not rigorously compared the rates of CNVs impacting genes with brain function in cases to controls, and therefore do not address important confounders..

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