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Human genetics

Sharp focus on the variable genome

Copy-number variation — deleted or duplicated regions of DNA — is widespread in the human genome. A systematic population survey of the common variants provides an invaluable resource for further studies.

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Figure 1: Demonstrating copy-number variants (CNVs) related to disease.


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Armour, J. Sharp focus on the variable genome. Nature 461, 735–736 (2009).

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