Cataloging genomes

    Thousands of geneticists are in Philadelphia this week for an annual human genetics meeting. Many of those scientists are trudging through billions of DNA data points to understand why each person’s health is different.

    Thousands of geneticists are in Philadelphia this week for an annual human genetics meeting. Many of those scientists are trudging through billions of DNA data points to understand why each person’s health is different.

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    Scientists have uncovered numerous minute genetic changes that contribute to human diseases. Francis Collins, the former director of the National Human Genome Research Institute, was a leader in trying to sequence the first human genome. At a press conference, he remarked that the pace of discovery since then has far exceeded his expectations

    Collins: I placed a bet…that by 2008 we would have discovered at least 5 well validated genetic variations for at least 4 diseases so that would be 20 all together.

    His guess was off by about 400.

    Collins: This has been a real revolution in terms of discovery. And each of these variants that pops up provides additional insight into the possible mechanisms of disease.

    Yet Collins says those variations still explain very little about why disease happens. So his former agency has embarked upon a massive cataloging effort to sequence 1,000 human genomes in an effort to provide more exhaustive data. The 1,000 genomes project is still in the nascent stages, but along the way, all the data are made public. It will be years before completion.

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