Navigation Links
454 sequencing uncovers significant genetic variation
Date:9/27/2007

BRANFORD, Conn., Sept. 27, 2007 454 Life Sciences, a Roche company, in collaboration with Yale University researchers today announced that they have developed a method, using the companys Genome Sequencer 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 much faster and economically than existing techniques. 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 precision, 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; 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., co-author of the study and 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.


'/>"/>

Contact: Benjamin Carmichael
benjamin.carmichael@russopartnersllc.com
212-845-4242
Noonan/Russo Communications
Source:Eurekalert

Related biology technology :

1. Purified Single-Stranded M13 DNA for Automated Sequencing
2. Automated Fluorescent-Tag Cycle Sequencing
3. Eppendorf Mastercycler ABI Big Dye Sequencing Protocol
4. END SEQUENCING
5. FULL LENGTH INSERT SEQUENCING
6. WHOLE GENOME SEQUENCING
7. SAGE & LONGSAGE SEQUENCING
8. SINGLE PASS SEQUENCING
9. QuickLane 24 - 48 Hour Sequencing
10. cDNA Sequencing & Finishing
11. Comparison of PCR Kleen Spin Columns to Traditional Methods for Purification of PCR Products Prior to Sequencing, Rev A
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2016)... June 24, 2016 Epic Sciences unveiled ... cancers susceptible to PARP inhibitors by targeting homologous ... (CTCs). The new test has already been incorporated ... multiple cancer types. Over 230 clinical ... response pathways, including PARP, ATM, ATR, DNA-PK and ...
(Date:6/23/2016)... ... June 23, 2016 , ... UAS LifeSciences, one ... of their brand, UP4™ Probiotics, into Target stores nationwide. The company, which has ... add Target to its list of well-respected retailers. This list includes such fine ...
(Date:6/23/2016)... , June 23, 2016 Houston Methodist ... the Cy-Fair Sports Association to serve as their ... agreement, Houston Methodist Willowbrook will provide sponsorship support, ... connectivity with association coaches, volunteers, athletes and families. ... the Cy-Fair Sports Association and to bring Houston ...
(Date:6/23/2016)... June 23, 2016   EpiBiome , a precision ... million in debt financing from Silicon Valley Bank (SVB). ... and to advance its drug development efforts, as well ... "SVB has been an incredible strategic partner ... a traditional bank would provide," said Dr. Aeron ...
Breaking Biology Technology:
(Date:6/22/2016)... BETHESDA, Md. , June 22, 2016  The American ... by Trade Show Executive Magazine as one of ... Summit on May 25-27 at the Bellagio in ... based on the highest percentage of growth in each of ... number of exhibiting companies and number of attendees. The 2015 ...
(Date:6/16/2016)... June 16, 2016 The ... expected to reach USD 1.83 billion by 2024, ... Research, Inc. Technological proliferation and increasing demand in ... expected to drive the market growth. ... The development of advanced multimodal techniques for ...
(Date:6/3/2016)... 3, 2016 Das ... Nepal hat ein 44 ... geprägter Kennzeichen, einschließlich Personalisierung, Registrierung und IT-Infrastruktur, ... Produktion und Implementierung von Identitätsmanagementlösungen. Zahlreiche renommierte ... Januar teilgenommen, aber Decatur wurde als konformste ...
Breaking Biology News(10 mins):