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Scientists Initiate Resequencing and Genotyping Projects

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Scientists from the J. Craig Venter Institute, the University of Washington, Seattle, and The Johns Hopkins University have initiated resequencing and genotyping research on five projects selected by the National Institutes of Health's National Heart, Lung, and Blood Institute (NHLBI), as part of the NHLBI's Resequencing and Genotyping Service (RS&G).

The RS&G program was established to enable researchers to identify disease pathways of heart, lung, and blood diseases, as well as sleep disorders, ultimately enabling discovery of targeted therapeutics.

"Making advanced high-throughput genomics technologies accessible to researchers will rapidly advance studies by uncovering biological mechanisms, which will ultimately lead to new intervention and prevention strategies of these complex diseases," said Samuel Levy, Ph.D., principal investigator at the J. Craig Venter Institute.

Launched in October 2004, RS&G awards complimentary resequencing and genotyping services to principal investigators currently conducting studies to determine the genetic cause, outcome, or progression of cardiovascular or respiratory diseases or sleep disorders.

Five projects to date have been selected by NHLBI for which Venter Institute and the University of Washington, Seattle is conducting resequencing.

Leveraging high-throughput resequencing capabilities, genes and genic regions are being resequenced using a PCR-based strategy for the amplification of genomic DNA, followed by capillary-based dye-terminator sequencing.

The Johns Hopkins University is performing genotyping analysis primarily through the use of its high-throughput Illumina BeadLab system within the Genetic Resources Core Facility of the McKusick- Nathans Institute of Genetic Medicine.

"NHLBI's RS&G program has already enabled identification of 344 SNPs in cardiac tissue from my lab's samples, of which more than 70 percent of the SNPs are novel, when compared to existing SNPs," noted award recipient Dan Roden, MD, professor of medicine and pharmacology at Vanderbilt University School of Medicine.

"This program is truly providing researchers who could otherwise not afford resequencing and genotyping the opportunity to understand how DNA variants will contribute to disease states."

Gail Jarvik, professor of medicine at the University of Washington Medical Center, was awarded one of the first five projects to determine the role of genes involved in the immune system in heart disease and stroke.

She noted, "The ability to compete for the highest quality of genetic support is an important new mechanism for rapidly moving promising research forward."

"NHLBI's first five projects are focused on genetic analysis of diseases, including chronic obstructive pulmonary disease (COPD), cardiac arrhythmias, iron deficiency, visceral adiposity, and carotid artery disease," commented Debbie Nickerson, Ph.D., professor of Genome Sciences at the University of Washington.

Alan Scott, Ph.D., director of Genetics Resources Core Facility at The Johns Hopkins University noted, "We hope that the success of these initial projects will encourage other principal investigators who don't currently have access to or cannot afford resequencing and genotyping services to take advantage of this program."