Exome Project Paper Shows Exon Sequencing's Potential for Rare Disease Research | GenomeWeb

By Julia Karow

Researchers at the University of Washington have demonstrated that they can pinpoint the gene responsible for a Mendelian disorder by sequencing the exomes of a small number of affected individuals.

One application of the approach is to study rare diseases where the underlying genetic cause is unknown. According to a study describing the method, published online two weeks ago in Nature, the strategy could also be used to uncover genes involved in diseases with more complex genetics that will require larger sample sizes.

Get the full story with
GenomeWeb Premium

Only $95 for the
first 90 days*

A trial upgrade to GenomeWeb Premium gives you full site access, interest-based email alerts, access to archives, and more. Never miss another important industry story.

Try GenomeWeb Premium now.

Already a GenomeWeb Premium member? Login Now.
Or, See if your institution qualifies for premium access.

*Before your trial expires, we’ll put together a custom quote with your long-term premium options.

Not ready for premium?

Register for Free Content
You can still register for access to our free content.

In PNAS this week: carbapenem resistance in Enterobacteriaceae, selection against educational attainment-linked variants, and more.

Technology Review points out that a new US presidential science advisor hasn't been selected.

Researchers find that blood tests might be able to help determine severity of a concussion, Wired reports.

President-elect Donald Trump considers other candidates for director of the National Institutes of Health, Nature News reports.