Three Sequencing Companies Join the 1000 Genomes Project

Abstract

Leaders of the 1000 Genomes Project announced on June 11 that 3 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 Roche company, Branford, Connecticut; Applied Biosystems, an Applera Corp. business, Foster City, California; and Illumina Inc, San Diego. The 1000 Genomes Project, which was announced in January 2008, 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, UK; 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, Massachusetts; and the Washington University Genome Sequencing Center at Washington University School of Medicine, St. Louis, Missouri. “The additional sequencing capacity and expertise provided by the three companies in the pilot phase will enable us to explore the human genome with even greater depth and speed than we had originally envisioned, and will help us to optimize the design of the full study to follow,” said Richard Durbin, PhD, of the Wellcome Trust Sanger Institute, who co-chairs the consortium. The 1000 Genomes Project builds on the International HapMap Project, which produced a comprehensive catalog of human genetic variation organized into haplotype neighborhoods. The HapMap catalog laid the foundation for the recent explosion of genome-wide association studies that have identified >130 genetic variants linked to a wide range of common diseases, including type 2 diabetes, coronary artery disease, prostate and breast cancers, rheumatoid arthritis, inflammatory bowel disease, and a number of mental illnesses. The HapMap catalog, however, only identifies genetic variants that are present at a frequency of ≥5%. The catalog produced by the 1000 Genomes Project will map many more details of the human genome and how it varies among individuals, identifying genetic variants that are present at a frequency of 1% across most of the genome and down to 0.5% or lower within genes. The 1000 Genomes Project's high-resolution catalog will serve to accelerate many future 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, MD, PhD. “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 before and that will be important for understanding the genetic contributions to health and illness.” In its first phase, expected to last about 1 year, the 1000 Genomes Project is conducting 3 pilots that will be used to decide the best strategies for achieving the goals of the full-scale effort. The first pilot involves sequencing the genomes of 6 people (2 nuclear families) at high resolution; the second involves sequencing the genomes of 180 people at lower resolution; and the third involves sequencing the coding regions of 1,000 genes in about 1,000 people. The full-scale project will involve sequencing the genomes of ≥1,000 people, drawn from several populations around the world. 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. Additional information about the project can be found at www.1000genomes.org/.