Abstract

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.

1. Institute for Juvenile Research, Department of Psychiatry, University of Illinois, 1747 West Roosevelt Road, Chicago, Illinois 60608, USA.
2. The Centre for Applied Genomics, Hospital for Sick Children, 14th floor, Toronto Medical Discovery Tower/MaRS Discovery District, 101 College Street, Toronto, Ontario M5G 1L7, Canada.
3. Department of Molecular Genetics, University of Toronto, Room 4396, 1 King's Circle, Toronto, Ontario M5S 1A8, Canada.

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