Genomic structural variation and schizophrenia.

It has recently been demonstrated that a large amount of structural variation exists in the human genome. Since 2004, when two landmark studies reported polymorphic levels of copy number variation in phenotypically normal individuals, our understanding of genome-wide levels of copy number variation has grown. This has inspired hypotheses about this class of variation's contribution to complex genetic phenotypes, including the specific hypothesis that structural variation is associated with psychiatric illness. The technology to accurately and efficiently detect polymorphic structural variants is still largely under development, but some examples of genomic imbalance contributing to schizophrenia and bipolar disorder already have been identified. Although much optimism surrounds this burgeoning field, the technical challenges in reliably identifying structural variation mean recent literature should be approached with caution.