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?

Browse our free articles
You can still register for access to our free content.

In Cell this week: Leukemia-like disease in soft-shell clams, mNET-seq method for profiling growing transcripts, and more.

While James Watson and Francis Crick are credited for discovering the structure of DNA, Rich proved their theory of a double helix structure was correct when he produced a distinct image of the structure.

Nature News reports that early users of Oxford Nanopore's hand-held MinIon are giddy about the technology and its uses. 

According to MIT Technology Review, Apple is collaborating with researchers to develop apps for consumer DNA testing.