NIH Aims to Assess Diagnostic Utility of SNP Arrays and Whole-Exome Sequencing | GenomeWeb

Since its inception in May 2008, the Undiagnosed Diseases Program at the National Institutes of Health has received more than 4,000 physician inquiries and in excess of 1,250 patients' medical records. Investigators involved in this trans-NIH initiative — led by William Gahl, clinical director of the National Human Genome Research Institute — have tackled more than 200 cases of rare diseases to date.

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.

The Wall Street Journal reports that National Institutes of Health Director Francis Collins' response to contamination concerns at the agency might have delayed care.

The final revision of the Common Rule doesn't include the proposed change requiring consent for leftover biospecimens.

The first Reproducibility Project: Cancer Biology papers show mixed results.

In Nature this week: mobile phone-based targeted DNA sequencing, and more.