454 Sequencing(TM): Science Paper Suggests That Structural Variation Plays an Important Role in Genetic... (e of structural variation and the observ...)

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

Date:9/27/2007

e 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 http://www.454.com.

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454 Sequencing(TM): Science Paper Suggests That Structural Variation Plays an Important Role in Genetic...(e of structural variation and the observ...)