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Researchers Sequence Exomes of 12 People

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Scientists who sequenced the exomes of 12 people say this new method could help efforts to identify disease-causing genes.

The new method used in the U.S. government-funded study involves isolating and sequencing all exons, which are parts of the genome that contain the information needed to produce proteins, the building blocks of the body.

The complete set of exons (the exome) accounts for only one percent of the human genome. Sequencing only the exome can reveal important genetic information about a person at a much lower cost than sequencing the entire genome.

"This focused approach will yield information that informs our understanding of the genetic basis of diseases, a prerequisite for personalized medicine," Dr. Elizabeth G. Nabel, director of the U.S. National Heart, Lung, and Blood Institute, said in a news release. "We have great hope that targeted sequencing, when applied to a larger number of individuals, will be used to discover the genetic underpinnings of common conditions, such as high blood pressure and high cholesterol. The current findings provide the fundamental groundwork for pursuing this important goal."

The research appears online in the journal Nature.

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