454 Life Sciences, a Roche company, announced the publication of the 250th peer-reviewed study using the Genome Sequencer System. Researchers are taking advantage of the high accuracy and long reads that the Genome Sequencer FLX System provides to quickly generate high quality, biologically relevant results. These results are yielding breakthrough publications, giving 454 Sequencing the fastest publication rate of any next-generation sequencing technology, with over 80 total publications in the second and third quarter of 2008.
The studies span a diverse group of sequencing applications: 82 whole genome sequencing papers including de novo sequencing and re-sequencing for comparative genomics; 54 small RNA studies; 37 papers in the fast growing field of metagenomics; 27 studies in transcriptome profiling, including whole transcriptome assembly and expression profiling; 13 studies examining chromosome structure and epigenetics; 10 studies in the new field of ultra-deep sequencing for rare variant detection; 11 studies examining ancient DNA. The remaining papers focus on the technology and informatics of the 454 Sequencing System. The diverse applications demonstrate the power of the 454 Sequencing System to tackle important areas of research, including fields that traditionally could not be addressed by sequencing.
The 250 peer-reviewed publications represents groundbreaking research, with many studies appearing in top tier journals, including: 20 papers in Nature, 13 papers in Science, 6 papers in Cell, 20 papers in Genome Research, and 24 papers in The Proceeding of the National Academy of Sciences, USA. The studies published to date come from diverse research fields, such as cancer research, infectious diseases research, drug discovery, marine biology, anthropology, and paleontology. The 250 papers are complemented by numerous review articles that explore the current uses and future potential of 454 Sequencing.
A number of key publications in one week extended the total count over 250. Two of these studies titled “Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers” and “Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing” highlight the ability of the GS FLX System to accurately characterize genetic variation in a Disease Associated Region and to identify low frequency somatic mutations in cancer samples. The first study, performed by researchers at the National Cancer Institute (USA), employed standard shotgun sequencing of a targeted genomic region to identify heterozygotic variation associated with cancers. The second study, from researchers at the Wellcome Trust Sanger Institute (UK), used 454 ultra-deep amplicon sequencing to detect novel, rare variants, including single-nucleotide polymorphisms (SNPs), insertion, and deletions in the Ig heavy chain locus of multiple B-cell chronic lymphoma leukemia samples. Citations for these studies and the others can be found on the Roche 454 website, 454
In addition to opening up many research areas to genomic analysis, the 454 Sequencing System has also accelerated the pace of discovery. To perform, analyze, write and submit a paper for a peer-reviewed publication, using conventional technologies, is usually a year-long process. The pace at which researchers using the Genome Sequencer system have published their discoveries demonstrates the high data quality and easy analysis of 454 Sequencing results.
“Reaching our 250th peer-reviewed publication so quickly, demonstrates the ease with which researchers can interpret 454 sequence data and make biologically meaningful conclusions,” explained Christopher Mcleod, president and CEO of 454 Life Sciences. “The combination of 454 Life Science’ long, high quality reads and availability of easy-to-use analysis tools means our customer can focus on the science, not the technology. Projects can be completed quickly and new research avenues can be pursued.”
454 Life Sciences, a center of excellence of Roche Applied Science, develops and commercializes the innovative 454 Sequencing System for ultra-high-throughput DNA sequencing. Specific applications include de novo sequencing and re-sequencing of genomes, metagenomics, RNA analysis, and targeted sequencing of DNA regions of interest. The hallmarks of the 454 Sequencing System are its simple, unbiased sample preparation and long, highly accurate sequence reads, including paired reads. The technology of the 454 Sequencing System has enabled many peer-reviewed studies in diverse research fields, such as cancer and infectious disease research, drug discovery, marine biology, anthropology, paleontology and many more. For additional information, please visit genome-sequencing
Headquartered in Basel, Switzerland, Roche is one of the world’s leading research-focused healthcare groups in the fields of pharmaceuticals and diagnostics. As the world’s biggest biotech company and an innovator of products and services for the early detection, prevention, diagnosis and treatment of diseases, the Group contributes on a broad range of fronts to improving people’s health and quality of life. Roche is the world leader in in-vitro diagnostics and drugs for cancer and transplantation, and is a market leader in virology. It is also active in other major therapeutic areas such as autoimmune diseases, inflammatory and metabolic disorders and diseases of the central nervous system. In 2007 sales by the Pharmaceuticals Division totalled 36.8 billion Swiss francs, and the Diagnostics Division posted sales of 9.3 billion francs. Roche has R&D agreements and strategic alliances with numerous partners, including majority ownership interests in Genentech and Chugai, and invested over 8 billion Swiss francs in R&D in 2007. Worldwide, the Group employs about 80,000 people. Additional information is available on the Internet at roche.
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