In a pioneering effort that generated massive amounts of DNA sequence data from 12 people, a team supported by the National Institutes of Health (NIH) has demonstrated the feasibility and value of a new strategy for identifying relatively rare genetic variants that may cause or contribute to disease. The proof-of-concept findings were published online today in the journal Nature.
The new strategy involves isolating and sequencing all exons which are the parts of the human genome that contain the information needed to produce proteins, the building blocks of the body. The complete set of exons referred to as the "exome" makes up only one percent of the human genome. By selecting only the exome to sequence, the important information about an individual can be obtained at a much lower cost than sequencing a person's entire genome. Assessment of the results of exome sequencing is based on knowledge of the genetic code and allows for a more informative interpretation of genetic variants. Using the exome strategy, like other methods of direct DNA sequencing, investigators also can detect rare variants that typically provide a stronger indication of disease susceptibility.
The research, conducted by scientists from the University of Washington in Seattle, Wash., and Agilent Technologies in Santa Clara, Calif., was funded by the National Heart, Lung, and Blood Institute (NHLBI), the National Human Genome Research Institute (NHGRI), and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which are all part of the NIH. It was carried out as part of The Exome Project, a program jointly managed by the NHLBI and the NHGRI that was established to develop, validate, and begin to apply a cost-effective, high-throughput approach for exome sequencing that can be deployed in large, well-phenotyped human populations.
"This focused approach will yield information that informs our understanding of the
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NIH/National Heart, Lung and Blood Institute