Roche Introduces Enhanced Whole Exome Sequencing Solution
News Sep 23, 2015
This is a comprehensive whole exome sequencing (WES) solution designed to increase the discovery and detection of human genetic variants associated with disease while reducing sequencing costs.
"The release of the SeqCap EZ MedExome Target Enrichment Kit is an example of Roche Sequencing's commitment to further the evolution of genomic medicine," said Rebecca Selzer, President of Roche NimbleGen. "Immense interest in this design from our customers worldwide led to initiation of an early product evaluation process resulting in more than 40 evaluations across 11 countries globally prior to launch. This technology puts some of the most powerful tools of modern genomics to use in more laboratories around the world and is an invaluable asset in furthering the research of disease-associated mutations, while minimizing the need for costly retesting and follow-up sequencing."
Pekka Ellonen, Head of the Sequencing Unit for the Institute for Molecular Medicine Finland (FIMM) at the University of Helsinki, said, "We have evaluated a number of target enrichment systems for whole exome sequencing. The SeqCap EZ MedExome has demonstrated the best on-target read rates and evenness of coverage. Especially the clinically relevant exons are well covered. The protocol is straightforward yet flexible and the overnight hybridization further improves our response time. We are very excited to be an early adopter of this Roche product."
In a new study in cells, University of Illinois researchers have adapted CRISPR gene-editing technology to cause the cell’s internal machinery to skip over a small portion of a gene when transcribing it into a template for protein building. This gives researchers a way not only to eliminate a mutated gene sequence, but to influence how the gene is expressed and regulated.
Researchers published today a detailed description of the complete genome of bread wheat, the world's most widely-cultivated crop. This work will pave the way for the production of wheat varieties better adapted to climate challenges, with higher yields, enhanced nutritional quality and improved sustainability.