Using iPSCs and genomics to catch CNVs in the act

Urban Alexander Eckehart<sup>*</sup>; Purrnann Carolin

doi:10.1038/ng.3204

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Using iPSCs and genomics to catch CNVs in the act

作者：Urban Alexander Eckehart^*; Purrnann Carolin

来源：Nature Genetics, 2015, 47(2): 100-101.

DOI：10.1038/ng.3204

摘要

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.