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454 Sequencing(TM): Science Paper Suggests That Structural Variation Plays an Important Role in Genetic Variation
Date:9/27/2007

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 occurrenc
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