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1,000 Genomes Project Maps 16 Million DNA Variants: Why?

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(CBS) Remember the race to map the human genome? Science crossed that finish line in 2003. But it turns out that was just the beginning.

Scientists are now focusing on the small differences in our genomes, hoping to find  fresh clues to the origins of many diseases.

The effort is called the 1000 Genomes Project and already it claims to have found 16 million previously unknown variations in human DNA, about 95 percent of all variations in our species. That's just from the 800 people who are part of the pilot study. The group hopes to catalog DNA from 2,500 people before they are done.

Why does it matter?

"What really excites me about this project is the focus on identifying variants in the protein-coding genes that have functional consequences," said Dr. Richard Gibbs, director of the Human Genome Sequencing Center at the Baylor College of Medicine, in a statement. "These will be extremely useful for studies of disease and evolution."

That's geek speak for finding cures to diseases that have genetic components, such as Alzheimer's, mental illness, cystic fibrosis and Huntington's Disease. The work may eventually also help certain cancers that are genetically linked such as breast and prostate.

The research is being done at government, academic and corporate facilities around the world including the National Institutes of Health in America and is made possible by new high speed techniques for mapping genetic material.

The pilot results were published in Nature and are being shared freely to speed research.

Check out the project for yourself here.


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