SAN FRANCISCO (GenomeWeb) – Repeat expansions cause more than 30 inherited disorders, yet diagnosing them correctly can be challenging. Overlapping phenotypes make diagnosis by the gold standard methods — Southern blot or PCR — time consuming, while whole-genome and exome sequencing with short reads often miss the expansions.

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.

The World Health Organization has announced the members of its gene-editing committee, according to NPR.

DARPA is working on developing algorithms that gauge the credibility of research findings, Wired reports.

The American Society of Breast Surgeons recommends all women diagnosed with breast cancer be offered genetic testing, the Washington Post says.

In Science this week: comparison of modern, historical rabbit exomes uncovers parallel evolution after myxoma virus exposure; and more.

Feb
19
Sponsored by
Pillar Biosciences

This webinar will demonstrate how clinical laboratories can develop their own customized targeted next-generation sequencing (NGS)-based solid tumor panels. 

Feb
21
Sponsored by
L7 Informatics

This webinar will provide a first-hand look at how Gradalis, a clinical-stage immunotherapy developer, is using an information management solution from L7 to streamline its research, clinical, and manufacturing operations.

Feb
26
Sponsored by
Advanced Cell Diagnostics

This webinar will demonstrate how a research team at the Firestone Institute for Respiratory Health at McMaster University developed a cellular and molecular phenotyping pipeline using archived samples of lung tissue derived from patients diagnosed with fibrotic interstitial lung disease. 

Mar
13
Sponsored by
Horizon Discovery

This webinar will discuss development and validation of an assay for detection of microsatellite instability (MSI) based on a novel set of biomarkers.