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Global genome effort seeks genetic roots of disease
Date:10/31/2012

By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide.

The 1000 Genomes Project involved some 200 scientists at Washington University School of Medicine in St. Louis and other institutions. Results detailing the DNA variations of individuals from 14 ethnic groups are published Oct. 31 in the journal Nature. Eventually, the initiative will involve 2,500 individuals from 26 populations.

"With this resource, researchers have a roadmap to search for the genetic origins of diseases in populations around the globe," says one of the study's co-principal investigators, Elaine Mardis, PhD, co-director of The Genome Institute at Washington University. "We estimate that each person carries up to several hundred rare DNA variants that could potentially contribute to disease. Now, scientists can investigate how detrimental particular rare variants are in different ethnic groups."

At the genetic level, any two people are more than 99 percent alike. But rare variants those that occur with a frequency of 1 percent or less in a population are thought to contribute to rare diseases as well as common conditions like cancer, heart disease and diabetes. Rare variants may also explain why some medications are not effective in certain people or cause side effects such as nausea, vomiting, insomnia and sometimes even heart problems or death.

Identifying rare variants across different populations is a major goal of the project. During the pilot phase of the effort, the researchers found that most rare variants differed from one population to another, and that they developed recently in human evolutionary history, after populations in Europe, Africa, As
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Contact: Caroline Arbanas
arbanasc@wustl.edu
314-286-0109
Washington University School of Medicine
Source:Eurekalert  

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