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.

NPR reports that Turkish high school students will no longer study evolution.

Researchers report they sequenced and identified plant species in an "al fresco" laboratory.

An Australian team searches for genetic alterations linked to depression in hopes of developing personalized treatments, the Sydney Morning Herald reports.

In PNAS this week: host contributors to typhoid fever risk, effects of obesity-related variants near TMEM18, and more.

Sep
27
Sponsored by
Philips Genomics

This webinar will present an in-depth look at how Memorial Sloan Kettering Cancer Center has developed and implemented a next-generation sequencing panel for mutational tumor profiling of advanced cancer patients.

Sep
28
Sponsored by
Fabric Genomics

This webinar will discuss the critical role that software can play for clinical labs looking to establish comprehensive genomic testing programs.