Disease-Causing Genetic Variants May Soon Be Uncovered

by Tanya on  August 20, 2009 at 8:32 AM Research News
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A group of scientists in the U.S. have shown the feasibility and value of a new strategy for identifying relatively rare genetic variants that may cause or contribute to disease.

In a study supported by the National Institutes of Health (NIH), they tested the strategy that 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 researchers say that the complete set of exons called the "exome"-which makes up only one percent of the human genome-can be sequenced to obtain the important information about an individual at a much lower cost than sequencing a person's entire genome.

They have revealed that 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.

According to them, the exome strategy can also be helpful in detecting rare variants that typically provide a stronger indication of disease susceptibility.

The research was carried out as part of The Exome Project, a program 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 genetic basis of diseases, a prerequisite for personalized medicine," Nature magazine quoted Dr. Elizabeth G. Nabel, the Director of the National Heart, Lung, and Blood Institute (NHLBI), as saying.

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