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.

Dog DNA testing finds that some purebreds might not truly be purebreds, Inside Edition reports.

Mary Beckerle has returned as director of the Huntsman Cancer Institute, according to ScienceInsider.

Smithsonian Magazine reports that environmental DNA sampling can be used to track elusive organisms.

In Genome Research this week: repetitive satellite DNA in the fruit fly, transcriptome map assembly pipeline, and more.

Apr
27
Sponsored by
SeraCare

This webinar is the third in a four-part series highlighting real-world examples of how some lab directors are bringing validated next-generation sequencing-based tests to the clinic.

May
09
Sponsored by
SeraCare

This webinar is the last in a four-part series highlighting real-world examples of how some lab directors are bringing validated next-generation sequencing-based tests to the clinic.