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.

Software pinpoints cause of mystery genetic disorder

Genome analysis tools speedily track down previously unknown mutation.

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

References

  1. Rope, A.F., et al. Am. J. Hum. Genet. doi:10.1016/j.ajhg.2011.05.017 (2011).

  2. Yandell, M., et al. Genome Res. doi:10.1101/gr.123158.111 (2011).

Download references

Authors

Related links

Related links

Related links in Nature Research

The Human Genome at Ten

Related external links

Mark Yandell’s Lab

University of Utah Department of Human Genetics

Rights and permissions

Reprints and permissions

About this article

Cite this article

Maher, B. Software pinpoints cause of mystery genetic disorder. Nature (2011). https://doi.org/10.1038/news.2011.382

Download citation

  • Published:

  • DOI: https://doi.org/10.1038/news.2011.382

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