"Human genomics is enjoying a most productive period in the identification of genes associated with rare diseases thanks to next generation sequencing technologies. The gap between the identification of a disease locus and the actual documentation of causative mutations was a daunting task until recently; presenting a serious bottleneck in medical genetics studies" explained Prof. Tayfun ?¶z?§elik, "However, now as we celebrate the 10th anniversary of the completion of the human genome project, 'omics technologies coupled with genome sequencing approaches are offering unparalleled opportunities to better understand human evolution, early human migration and genetic diversity. Undoubtedly, next generation sequencing will lead to scientific discoveries, which will enable genetic knowledge to be translated into medical knowledge and contribute substantially to the understanding of the genetic basis of human diseases worldwide".

"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 ?¶z?§elik will help us better understand the causes of many genetic diseases, hopefully leading to future breakthroughs in diagnostic and therapeutic interventions."

SOURCE  Roche