Using iPSCs and genomics to catch CNVs in the act

Alexander Eckehart Urban; Carolin Purmann

doi:10.1038/ng.3204

Using iPSCs and genomics to catch CNVs in the act

Nat Genet. 2015 Feb;47(2):100-1. doi: 10.1038/ng.3204.

Authors

Alexander Eckehart Urban¹, Carolin Purmann¹

Affiliation

¹ Departments of Psychiatry and Behavioral Sciences and the Department of Genetics, Stanford University, Stanford, California, USA.

PMID: 25627897
DOI: 10.1038/ng.3204

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.

Publication types

Comment

MeSH terms

Chromosomes, Human, Pair 7 / genetics*
DNA Copy Number Variations*
Gene Expression Regulation / genetics*
Humans
Pluripotent Stem Cells / physiology*
Transcription Factors, TFII / genetics*
Williams Syndrome / genetics*

Substances

GTF2I protein, human
Transcription Factors, TFII