Michael Egholm, Ph.D., vice president of R&D at 454, said, "We are proud to contribute to the 1000 Genomes Project as we further our ongoing support of researchers worldwide and their goal of deepening our understanding of human genome complexity. By applying innovative technology to these complex challenges, this project will deliver the highest standard of data quality and analysis."

In its first phase, expected to last about a year, the 1000 Genomes Project is conducting three 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 six people (two 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 at least 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.

Given the rapid pace of sequencing technology development, the cost of the entire effort is difficult to estimate, but is expected to be about $60 million. The sequence data provided by the three companies are estimated to be worth approximately $700,000 for the pilot phase, and the firms are expected to contribute much more sequencing to the full project.

Already, the 1000 Genomes Project has generated such vast quantities of data that the information is taxing the current capacity of public research databases. Since the first phase was begun in late January, project participants have produced and deposited some 240 billion bases of genetic information with the European Bioinformatics Institute and the National Center for Biotechnology Information, a part of the U.S. National Library of Medicine. Data generated by the 1000 Genomes Project also will be distributed from a mirror site at BGI Shenzhen.

Along with their contributions of sequencing capacity, the companies, like all other project participants, have agreed to comply with the open access policies established by the 1000 Genomes Project Steering Committee. Those policies include rapid public release of the data, including project participants having no early access to the data; an intellectual property policy that precludes any participants from controlling the information produced by the project; regular progress reporting; and coordination of scientific publications with the rest of the consortium.

Additional information about the project can be found at http://www.1000genomes.org/.

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