Navigation Links
454 Sequencing(TM): Science Paper Suggests That Structural Variation Plays an Important Role in Genetic Variation

BRANFORD, Conn., Sept. 27 /PRNewswire/ -- 454 Life Sciences, a Roche company, in collaboration with Yale University researchers today announced that they have developed a method, using the company's Genome Sequencer(TM) FLX system, to identify significant human genetic variability with an unprecedented level of detail. The new method enables researchers to analyze genome-wide structural variations (SV), the gross changes to the genetic code in a very fast and economic way. The study, entitled "Paired-End Mapping Reveals Extensive Genomic Structural Variation in Humans," appears online (ahead of print) today in the journal Science.

Previous studies of human genomic variation tended to look at changes called single nucleotide polymorphism, variations that involve just one nucleotide, commonly referred to as SNP. However, the study published today suggests that structural variation is responsible for a larger number of differences between the genomes of two individuals than SNPs. Furthermore, structural variation may have notable physical effects on an individual. The role that SV plays in human variability has not been well understood because of cost-prohibitive and imprecise technology used in previous research. The novel approach described today in Science, called Paired End Mapping (PEM), used 454 Sequencing to comprehensively study SV at an unmatched level of resolution, detecting most of the structural variation in the human genome.

"454 Sequencing enabled us to efficiently identify over 1000 structural variations in two individuals. Our study demonstrates that a large number of SVs are present in the human population and that SV plays a greater role in genetic diversity than SNP," explained Michael Snyder, PhD., senior author and Lewis B. Cullman Professor of Molecular, Cellular and Developmental Biology and Professor of Molecular Biophysics and Biochemistry and Director of the Yale Center for Genomics and Proteomics. "The widespread occurrence of structural variation and the observation that many genes are affected, suggests that SV is likely to be a major form of human variation. It will be essential to incorporate SV detection in human genome sequencing projects."

Although SVs were found throughout the genome, researchers found that many SVs are concentrated in specific regions or "hot spots." Several of these "hot spots" are regions of the genome known to correlate to some genetic diseases such as Velocardiofacial Syndrome, and Williams-Beuren Syndrome. Furthermore, structural variation may affect gene function by altering the frequency of a given gene, changing its structure, or alter how the gene is regulated.

"454 Sequencing can generate hundreds of thousands of long read pairs that are unique within the human genome to quickly and accurately determine genomic variations," explained Michael Egholm, Ph.D., vice president of research and development at 454 Life Sciences. "This highly accurate study of human genomic structural variation along with the recently sequenced genome of Jim Watson confirms that 454 Sequencing is the first affordable technology to offer a comprehensive view of the human genome."

454 Life Sciences develops and commercializes the innovative Genome Sequencer(TM) system for ultra-high-throughput DNA sequencing. Specific applications include de novo sequencing and re-sequencing of whole genomes, metagenomics, RNA analysis, and targeted sequencing of DNA regions of interest. The hallmarks of 454 Sequencing(TM) are its simple, unbiased sample preparation and long, highly accurate sequence reads, including paired reads. 454 Sequencing technology has enabled many peer-reviewed studies in diverse research fields such as: cancer research, infectious diseases research, drug discovery, marine biology, anthropology, paleontology, and many more.

For additional information, please visit

About Roche and the Roche Diagnostics Division

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, a market leader in virology and active in other major therapeutic areas such as autoimmune diseases, inflammation, metabolism and central nervous system. In 2006 sales by the Pharmaceuticals Division totalled 33.3 billion Swiss francs, and the Diagnostics Division posted sales of 8.7 billion Swiss francs. Roche employs roughly 75,000 worldwide and has R&D agreements and strategic alliances with numerous partners, including majority ownership interests in Genentech and Chugai. Roche's Diagnostics Division offers a uniquely broad product portfolio and supplies a wide array of innovative testing products and services to researchers, physicians, patients, hospitals and laboratories world-wide. For further information, please visit our website at

For more information please contact

Roche Diagnostics GmbH

Dr. Burkhard Ziebolz

Phone +49 (8856) 60 4830


Russo Partners, LLC

Tony Russo

(212) 845-4251

Russo Partners, LLC

Benjamin Carmichael

(212) 845-4242

SOURCE 454 Life Sciences
Copyright©2007 PR Newswire.
All rights reserved

Related biology technology :

1. Advantages of Roche Applied Science amplification products
2. Tools for Proteomic Science II
3. Exploiting the Life Science Data Explosion to Speed New Drug Discovery
4. Food science: increasing crop yields
5. Automation of the Eppendorf Perfectprep BAC 96 DNA Kit on the Caliper Life Sciences Sciclone ALH 3000
6. World Class Life Science and Pharmaceutical Companies Leverage DoveBid s Global Reach for Asset Management and Disposition
7. NanoRite Innovation Center opens with small science, big promise
8. Midwest life science stocks kept sizzling in Q2
9. Perscitus Biosciences secures $250K Commerce loan
10. Wisconsin biosciences rise to the challenge
11. Wisconsin professors elected to National Academy of Sciences
Post Your Comments:
(Date:11/24/2015)... /PRNewswire/ - Aeterna Zentaris Inc. (NASDAQ:  AEZS) (TSX: AEZ) (the ... the Toronto Stock Exchange, confirms that as of the ... developments that would cause the recent movements in the ... --> About Aeterna Zentaris Inc. ... Aeterna Zentaris is a specialty biopharmaceutical company engaged in ...
(Date:11/24/2015)... SHPG ) announced today that Jeff Poulton , ... Annual Healthcare Conference in New York City ... (1:30 p.m. GMT). --> SHPG ) announced today that ... Piper Jaffray 27 th Annual Healthcare Conference in ... at 8:30 a.m. EST (1:30 p.m. GMT). --> Shire ...
(Date:11/24/2015)... ... November 24, 2015 , ... ... are paramount. Insertion points for in-line sensors can represent a weak spot where ... InTrac 781/784 series of retractable sensor housings , which are designed to tolerate ...
(Date:11/24/2015)... Nov. 24, 2015 HemoShear Therapeutics, LLC, ... drugs for metabolic disorders, announced today the appointment ... Board of Directors (BOD). Mr. Watkins is the ... Genome Sciences (HGS), and also served as the ... Jim Powers , Chairman and CEO of HemoShear ...
Breaking Biology Technology:
(Date:10/29/2015)... ANN ARBOR, Mich. , Oct. 29, 2015 ... with Eurofins Genomics for U.S. distribution of its ... DNA-seq kit and Rubicon,s new ThruPLEX Plasma-seq ... DNA to enable the preparation of NGS libraries ... in plasma for diagnostic and prognostic applications in ...
(Date:10/29/2015)... , October 29, 2015 ... biometric authentication company focused on the growing mobile ... wallet announces that StackCommerce, a leading marketplace to ... featuring the Wocket® smart wallet on StackSocial for ... ) ("NXT-ID" or the "Company"), a biometric authentication ...
(Date:10/27/2015)... NEW YORK , Oct. 27, 2015 ... the major issues of concern for various industry verticals ... This is due to the growing demand for secure ... practices in various ,sectors, such as hacking of bank ... concerns for electronic equipment such as PC,s, laptops, and ...
Breaking Biology News(10 mins):