“NimbleGen and 454 Life Sciences' technologies worked wonderfully in this study. Combining new targeted next generation sequencing technologies with the traditional genetic linkage analysis enabled the efficient capture and high quality sequencing of the region, and led to the discovery of the disease causing mutation at a speed which was unimaginable a few years ago. It is quite convincing that, these kinds of studies will be a primary scientific and medical tool in the near future.” added Dr. Gulsuner.

“We are excited to see the medical value that Roche products, such as NimbleGen Sequence Capture, provide in helping researchers unravel another unknown mystery in inherited diseases.” stated Dr. Frank Pitzer, CEO at Roche NimbleGen. “We believe similar studies carried out by researchers like Prof. Tayfun Özçelik will help us better understand the causes of many genetic diseases, hopefully leading to future breakthroughs in diagnostic and therapeutic interventions.”

For more information on Roche NimbleGen, visit www.nimblegen.com

About Roche
Headquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world's largest biotech company with truly differentiated medicines in oncology, virology, inflammation, metabolism and CNS. Roche is also the world leader in in-vitro diagnostics, tissue-based cancer diagnostics and a pioneer in diabetes management. Roche's personalised healthcare strategy aims at providing medicines and diagnostic tools that enable tangible improvements in the health, quality of life and survival of patients. In 2009, Roche had over 80'000 employees worldwide and invested almost 10 billion Swiss francs in R&D. The Group posted sales of 49.1 billion Swiss francs. Genentech, United States, is a wholly owned member of the Roche Group. Roche has a majority stake in Chugai Pharmaceutical, Japan. For more information: www.roche.com.

For life science research only. Not for use in diagnostic procedures.

454, 454 LIFE SCIENCES, 454 SEQUENCING, GS FLX, and NIMBLEGEN, are trademarks of Roche.

Other brands or product names are trademarks of their respective holders.

Contact: Roche Diagnostics
Dr. Burkhard Ziebolz
Phone: +49-8856-604830
Email: burkhard.ziebolz@roche.com
or
Roche NimbleGen
Kary Staples
Phone: +1-608-218-7623
Email: kary.staples@roche.com

转载自pharmaLive