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Species diversity helps ASU researchers refine analyses of human gene mutations
Date:9/3/2009

ement of this theory was found in the subset of mutations discovered in disease-associated genes. Such mutations are clustered in positions of the genome that are conserved over evolutionary time or in mutant protein sequences that are rarely seen. Amazingly, less than 10 percent of known single gene disease mutations are ever found in other species.

As Kumar notes, evolution has provided researchers with a storehouse of genetic mutations, many of which will prove benign for human health. "Suppose you had a mutation at a certain position," he explains, "and your dog has the same change as you have. It's most likely that that change is not harmful." By the same token, if no other species contains the mutation found in one's genome, it calls for further investigation.

Kumar stresses that it will take a combination of additional DNA sequencing data and improved understanding of protein function to refine the power of computer analyses. In the meantime, his bioinformatics evaluations of current computer tools suggest where such tests may be appropriately used for diagnosis with higher confidence and where their results are more likely to be unreliable.

With the costs of rapid DNA sequencing plummeting, individual genetic profiling is already becoming popular, offering every patient access to an enormous treasure trove of medically-relevant information. According to Kumar, the ultimate challenge will be sorting out what all this genetic information implies for each individual's prognosis. Only then will the promise of personalized medicine be fully realized.


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Contact: Joe Caspermeyer
joseph.caspermeyer@asu.edu
480-727-0369
Arizona State University
Source:Eurekalert

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