A group of researchers at Children's Mercy Hospital, led by Stephen Kingsmore, is using the "rapid mode" capabilities of Illumina's HiSeq2500 combined with novel software tools to sequence the genomes of infants entering Children's Mercy Hospital's neonatal intensive care unit, in the hopes of diagnosing rare monogenic diseases that present with serious symptoms early in life.

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 PNAS this week: co-evolutionary signatures of insect hosts and bacterial symbionts, distinct transcript isoforms of high-grade ovarian cancer, and more.

Adam Rutherford discusses genetic genealogy at the Guardian.

Portions of the US 21st Century Cures Act are raising some safety concerns.

David Dobbs writes at Buzzfeed that genomics has delivered little on its promises.