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Evolutionary information improves discovery of mutations associated with diseases
Date:7/18/2012

A book containing misprints may cause annoyance for the reader, but typos in an individual's genetic blueprint (DNA) can mean serious disease or even death. The search for genetic correlates for the wide range of diseases plaguing humankind has inspired a wealth of research falling under the heading of genome-wide association studies (GWAS).

According to Sudhir Kumar, director of the Center for Evolutionary Medicine and Informatics at Arizona State University's Biodesign Institute, however, results from many such studies become less useful when gene variants or alleles implicated in disease in a given population fail to be discovered in subsequent independent studies. "Often, we do not discover the same set of mutations for the same disease in different populations," he says. "This is a huge problem in genomic medicine. "

Kumar and colleagues Joel T. Dudley, Rong Chen, Maxwell Sanderford, and Atul J. Butte, have developed a statistical method to remedy this problem by using evolutionary information. It is capable of significantly enhancing the likelihood of identifying disease-associated alleles that show better consistency across populations, improving the reliability of GWAS studies. The method makes use of phylogeneticsthe comparative study of species genomes through long-term evolutionary history.

The group's research appeared in the advanced online issue of the journal Molecular Biology and Evolution. The new method is now available to use via the web, so that researchers worldwide can apply it as an aid to discovering disease-associated mutations that are more consistently reproducible and therefore useable as diagnostic markers. Kumar refers to this new approach, combining standard comparative genomic studies with phylogenetic data as phylomedicine, a rapidly developing field that promises to streamline genomic information and improve its diagnostic power.

"We can take this method and apply it to all the
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Contact: Joseph Caspermeyer
Joseph.Caspermeyer@asu.edu
Arizona State University
Source:Eurekalert  

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