454 Sequencing Joins the International 1000 Genomes Project

Leaders of the 1000 Genomes Project announced today that three firms that have pioneered development of new sequencing technologies have joined the international effort to build the most detailed map to date of human genetic variation as a tool for medical research. The new participants are: 454 Life Sciences, a company of Roche, Branford, USA.; Applied Biosystems, an Applera Corp. business, Foster City, USA.; and Illumina Inc., San Diego, USA.

The 1000 Genomes Project, which was announced in January, is an international research consortium that is creating a new map of the human genome that will provide a view of biomedically relevant DNA variations at a resolution unmatched by current resources. Organizations that have already committed major support to the project are: the Beijing Genomics Institute, Shenzhen, China; the Wellcome Trust Sanger Institute, Hinxton, Cambridge, U.K.; and the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. The NHGRI-supported work is being done by the institute’s Large-Scale Sequencing Network, which includes the Human Genome Sequencing Center at Baylor College of Medicine, Houston; the Broad Institute of MIT and Harvard, Cambridge, Mass.; and the Washington University Genome Sequencing Center at Washington University School of Medicine, St. Louis.

Previous studies, such as the International HapMap project, have identified genetic variants that are present at a frequency of 5 percent or greater. The catalog produced by the 1000 Genomes Project will map many more details of the human genome and how it varies between individuals, identifying genetic variants that are present at a frequency of 1 percent across most of the genome and down to 0.5 percent or lower within genes. The 1000 Genomes Project’s high-resolution catalog will serve to accelerate many future research studies of people with specific illnesses.

“In some ways, this application of the new sequencing technologies is like building bigger telescopes,” said NHGRI Director Francis S. Collins, M.D., Ph.D. “Just as astronomers see farther and more clearly into the universe with bigger telescopes, the results of the 1000 Genomes Project will give us greater resolution as we view our own genetic blueprint. We’ll be able to see more things more clearly than ever before and that will be important for understanding the genetic contributions to health and illness.”

The full-scale project will involve sequencing the genomes of at least 1,000 people, drawn from several populations around the world, though that number will likely grow to 1,500 or more. The project will use samples from donors who have given informed consent for their DNA to be analyzed and placed in public databases. Most of these samples have already been collected, and any additional samples will come from specific populations. The data will contain no medical or personal identifying information about the donors.

“454 Life Sciences is proud to become contributor to the 1000 genomes project as we continue to contribute to the community's understanding of the complexity of the human genome. As a natural follow up to the human genome project and the HAP MAP project, this new endeavor will significantly expand our knowledge of genetic variation and accelerate the realization of personalized medicine,” said Michael Egholm, Ph.D, Vice President of R&D at 454 Life Sciences. “We believe that the 454 Sequencing System will make a significant impact on the project as the technology’s high accuracy and long read lengths, in excess of 400 bases, generate the high quality results needed to comprehensively identify variations between individual human genomes.”