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Nature 455, 919-923 (16 October 2008) | doi:10.1038/nature07458; Published online 15 October 2008

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Review Article Copy-number variations associated with neuropsychiatric conditions

Edwin H. Cook Jr1 & Stephen W. Scherer2,3

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Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to genetic alterations, but identifying the genes responsible has proved challenging. Microarray experiments have now revealed abundant copy-number variation — a type of variation in which stretches of DNA are duplicated, deleted and sometimes rearranged — in the human population. Genes affected by copy-number variation are good candidates for research into disease susceptibility. The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy-number variants and the genes that they affect needs to be considered in an integrated context.

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