Roche and Oxford University: Cooperation to Evaluate 454 Sequencing and NimbleGen High-Density Arrays for Genetic Disease Analysis

17 Jul 2008

Product news

Roche Diagnostics Ltd. today announced that they will support the Oxford Biomedical Research Centre (OxBRC) - a partnership between the Oxford Radcliffe Hospitals NHS Trust and University of Oxford - in the development of solutions enabling improved genetic and cytogenetic testing. Using the next-generation sequencing technology of 454 Sequencing and high-density arrays of Roche NimbleGen, the Oxford BRC will work on improved solutions for the analysis of genetic diseases.

The OxBRC undertakes “translational research” - taking research from the lab bench to the bedside. This involves translating basic research, done on a molecular or cellular level, to a clinical or patient-level, therefore driving medical innovations that are intended to improve healthcare delivery for the benefit of all patients.

In the course of their research project, Oxford will install several 454 Genome Sequencer FLX systems, a next-generation sequencing platform characterized by long, highly accurate reads. In conjunction with 454 Sequencing, Oxford will employ NimbleGen arrays as a preparative tool for sequencing (Sequence Capture) and genome-wide detection of copy number variation (CGH). The marriage of these new innovative technologies for clinical genetic testing will be thoroughly evaluated and are believed to provide significant advantages over current methods. Clinically documented samples ascertained for selected diseases will be tested in three areas:

  • sequencing of several genes known for private familial mutations (454 Sequencing)
  • mutation screening in a large number of genes (454 Sequencing and NimbleGen Sequence Capture Arrays)
  • identification of genes and regions with genomic imbalances (NimbleGen CGH Arrays)

Manfred Baier, Head of Roche Applied Science, said, “We are very interested to further evaluate the potential of our technologies for medical applications. During the last few years we have seen many publications in high ranking scientific journals that illustrate impressively the potential of 454 Sequencing and NimbleGen arrays in analyzing diseases.”

Professor Alastair Buchan, Director of the Oxford Biomedical Research Centre added: “Next generation sequencing and high density arrays are novel technologies with considerable clinical potential. Evaluation of these fits well with our strategy of driving innovation and translational research in medicine and we are very pleased to be working with Roche to evaluate these platforms.”

Genome Sequencer FLX System

The Roche Genome Sequencer FLX System, powered by 454 Sequencing, enables ground-breaking discoveries in de novo sequencing, resequencing of whole genomes and target DNA regions, metagenomics, and RNA analysis. Featuring a unique combination of long reads, exceptional accuracy, and ultra-high throughput, the Genome Sequencer FLX System delivers the most comprehensive result at a low total cost, giving it the best overall value of any next-generation sequencing platform. Features of the Roche Genome Sequencer FLX System include: • Obtain more comprehensive data. Generate more than 1,000,000 individual reads with improved Q20 read length of 400 bases per 10-hour instrument run. • Expand your project capabilities. Harness the power of DNA sequencing for your complete genome project with one versatile system. Combine long single reads and Long-Tag Paired end reads to completely assemble genomes-often within a single run. • Reduce your cost per result. Ultra-high throughput delivers the data you need at an affordable price while longer reads reduce over-sampling requirements, keeping data requirements manageable. Benefit from flexible sample-loading options that support various throughput and experimental design needs, enabling efficient use of reagents and consumables. • Increase your productivity. Streamline library preparation of genomics samples and eliminate the laborious tasks of cloning and colony picking - genomic libraries are constructed in hours in a single tube. • Drive results, not the accumulation of data files. Perform data analysis without the need for enterprise scale IT solutions with the included easy-to-use software tools - GS De Novo Assembler, GS Reference Mapper, and GS Amplicon Variant Analyzer. Straightforward interpretation of data means faster discovery of biologically meaningful results.

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Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.Microarray AnalysisMicroarrays, also known as biochips, are used for the detection and analysis of multiple genes, proteins, antibodies, or biomarkers on a single microchip. This can reveal information on protein or gene expression, single nucleotide polymorphism (SNP), copy number variation (CNV), epigenetics and patient health in clinical diagnostic tests. Discover a range of microarray scanners and prefabricated antibody, protein, RNA and DNA microarrays for your analysis or consider creating your own custom microarrays with a microarray printer. Find the best microarray products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.DNA SequencingDNA sequencing, such as sanger sequencing, is a biological technique that determines the precise order of nucleotide bases in a fragment or template of DNA. DNA sequencers and genetic analyzers are based on capillary electrophoresis, where labeled DNA fragments are electrophoretically separated by size as they migrate through a polymer. Find the best DNA sequencing products, including DNA sequencing kits, genomic libraries and genetic identity kits in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.
Roche and Oxford University: Cooperation to Evaluate 454 Sequencing and NimbleGen High-Density Arrays for Genetic Disease Analysis