Close Menu

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*

GenomeWeb Premium gives you:
✔ Full site access
✔ Interest-based email alerts
✔ Access to archives

Never miss another important industry story.

Try GenomeWeb Premium now.

You may already have institutional access!

Check if I qualify.

Already a GenomeWeb or 360Dx Premium member?
Login Now.

*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.

An initial analysis suggests the novel coronavirus from Wuhan that is sickening people might come from snakes, a team of virologists writes at the Conversation.

DNA testing confirms captured Chicago coyote same as the one that bit a boy near a nature museum, the Chicago Tribune reports.

An analysis of Tibetan ice cores uncovers more than two dozen previously unknown virus groups, LiveScience reports.

In Nature this week: genomic analysis of four children buried in Cameroon approximately 3,000 and 8,000 years ago, and more.