Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

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.

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

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

Marina Corral Spence/Nature Publishing Group

References

  1. Iafrate, A.J. et al. Nat. Genet. 36, 949–951 (2004).

    Article  CAS  Google Scholar 

  2. Sebat, J. et al. Science 305, 525–528 (2004).

    Article  CAS  Google Scholar 

  3. Scherer, S.W. et al. Nat. Genet. 39, S7–S15 (2007).

    Article  CAS  Google Scholar 

  4. 1000 Genomes Project Consortium. Nature 491, 56–65 (2012).

  5. Malhotra, D. & Sebat, J. Cell 148, 1223–1241 (2012).

    Article  CAS  Google Scholar 

  6. Southard, A.E., Edelmann, L.J. & Gelb, B.D. Pediatrics 129, 755–763 (2012).

    Article  Google Scholar 

  7. Adamo, A. et al. Nat. Genet. 47, 132–141 (2015).

    Article  CAS  Google Scholar 

  8. Tordjman, S. et al. Behav. Genet. 37, 61–78 (2007).

    Article  Google Scholar 

  9. Nestler, E.J. & Hyman, S.E. Nat. Neurosci. 13, 1161–1169 (2010).

    Article  CAS  Google Scholar 

  10. Pérez Jurado, L.A. et al. Am. J. Hum. Genet. 59, 781–792 (1996).

    PubMed  PubMed Central  Google Scholar 

  11. Urbán, Z. et al. Am. J. Hum. Genet. 59, 958–962 (1996).

    PubMed  PubMed Central  Google Scholar 

  12. Osborne, L.R. Mol. Genet. Metab. 67, 1–10 (1999).

    Article  CAS  Google Scholar 

  13. Merla, G. et al. Hum. Genet. 128, 3–26 (2010).

    Article  CAS  Google Scholar 

  14. Thatava, T. et al. Mol. Ther. 21, 228–239 (2013).

    Article  CAS  Google Scholar 

  15. Cahan, P. & Daley, G.Q. Nat. Rev. Mol. Cell Biol. 14, 357–368 (2013).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Alexander Eckehart Urban.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

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

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng.3204

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing