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454, ABI, Illumina Lend 1000 Genomes Project More Sequencing Muscle

NEW YORK (GenomeWeb News) – Illumina, Roche subsidiary 454 Life Sciences, and Applied Biosystems plan to boost the DNA sequencing power of the international 1000 Genomes Project, the National Human Genome Research Institute said today. 
 
Launched in January 2008, the 1000 Genomes Project is an international consortium focused on expanding on the Human Hap Map project by sequencing the genomes of 1,000 individuals, and providing a more comprehensive catalog of human genomic variation that is expected to contribute to studies of human disease, NHGRI said.
 
The three new participants each have agreed to sequence the equivalent of 75 billion DNA bases in the program’s pilot phase, generating the equivalent of 25 human genomes each over the coming year. They also have pledged to contribute additional sequence data over a three-year timeline.
 
Through a collaboration with the Human Genome Sequencing Center at Baylor College of Medicine, ABI has agreed to contribute an additional 200 billion bases of human sequence, according to NHGRI.
 
"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 of the Wellcome Trust Sanger Institute, who co-chairs the consortium.
 
"In some ways, this application of the new sequencing technologies is like building bigger telescopes," said NHGRI Director Francis Collins. “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 project used genotyping to identify genetic variants that are present at a frequency of 5 percent or greater, whereas the 1000 Genomes Project will identify variants present at a frequency of 1 percent over most of the genome, and as low as .5 percent within genes.
 
The first phase of the project involves three pilot studies that will develop strategies for approaching the full-scale effort, and the consortium will sequence the genomes of two nuclear families at high resolution. The second pilot will sequence 180 people at lower resolution, and the third will sequence the coding regions of 1,000 genes in around 1,000 people.
 
NHGRI said that since the first phase of the project began participants have produced and deposited around 240 billion bases with the European Bioinformatics Institute and the National Center for Biotechnology Information.

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