利用 iPSCs 和基因组学技术实时捕捉 CNVs。
Using iPSCs and genomics to catch CNVs in the act.
机构信息
Departments of Psychiatry and Behavioral Sciences and the Department of Genetics, Stanford University, Stanford, California, USA.
出版信息
Nat Genet. 2015 Feb;47(2):100-1. doi: 10.1038/ng.3204.
DOI:10.1038/ng.3204
PMID:25627897
Abstract
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.
摘要
大片段拷贝数变异（CNVs）与形态发生过程和常见的神经发育障碍密切相关。一项新的研究以威廉姆斯-比伦综合征（WBS）和威廉姆斯-比伦区域重复综合征为例，说明了诱导多能干细胞（iPSCs）和下一代基因组学如何有助于更好地理解复杂的遗传学。
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