The HapMap catalog, however, only identifies 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 among 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 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 before and that will be important for understanding the genetic contributions to health and illness."
The HapMap was based mainly on genotyping technology, in which genetic markers were used to broadly scan the genome. In contrast, the 1000 Genomes Project catalog will be built on sequencing technology, in which the genome is examined at the level of individual DNA letters, or bases. The increased resolution will enable the 1000 Genomes map to provide researchers with far more genomic context than the HapMap, including more precise information about the genetic variants that might directly contribute to disease.

"We find that there is a lot of value in participating in international consortia; they produce large datasets that are valuable to the scientific and medical communities while promoting the rapid release of the data," said Illumina Vice President and Chief Scientist David Bentley, Ph.D., who participated in the International HapMap Project.

To enhance the production of the 1000 Genomes map, each of the three biotech companies has agreed to sequence the equivalent of 75 billion DNA bases as part of the pilot phase. The human genome contains about 3 billion bases. Consequently, each company will contribute the equivalent of 25 human genomes over the next year, and additional sequence data over the project's expected three-year timeline. In addition, Applied Biosystems will contribute an additional 200 billion bases of human sequence through its collaboration with Baylor.

"This project is clearly the most ambitious and comprehensive study to date of the human genome. Our participation continues our commitment to partner with the scientific community to explore the genetic factors involved in human disease," said Francisco de la Vega, distinguished scientific fellow and vice president for SOLiD System Applications and Bioinformatics at Applied Biosystems.

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