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Using iPSCs and genomics to catch CNVs in the act

Large copy number variants (CNVs) are strongly associated with morphogenetic processes and common neurodevelopmental disorders. A new study uses the example of Williams-Beuren syndrome (WBS) and Williams-Beuren region duplication syndrome to illustrate how induced pluripotent stem cells (iPSCs) and next-generation genomics can lead to a better understanding of complex genetics.

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Figure 1: Analyzing the molecular effects of CNVs using iPSC models and genomics.

Marina Corral Spence/Nature Publishing Group

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Correspondence to Alexander Eckehart Urban.

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Urban, A., Purmann, C. Using iPSCs and genomics to catch CNVs in the act. Nat Genet 47, 100–101 (2015). https://doi.org/10.1038/ng.3204

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