WASHINGTON, D.C., AND LONDON--After 15 years of work by thousands of scientists around the world, two rival teams have completed draft sequences of the human genome and have taken the first of many passes at analyzing the data, presented this morning. Although much attention has focused on the competition between the two groups--and on each group's claim that its draft is superior--both groups converged, reassuringly, on the same underlying genome. And that genome is turning out to be full of surprises.
The full reports are already available online and will appear in the 16 February issue of Science and the 15 February issue of Nature. Science is publishing the sequence created by Celera Genomics of Rockville, Maryland, and Nature is publishing a series of reports by the International Human Genome Sequencing Consortium (IHGSC). Read about the project's history, politics, and business angles, and meet some of the effort's unsung heroes in this week's Science News section.
Today, Francis Collins, director of the U.S. National Human Genome Research Institute, emphasized the similarity between the two group's initial analyses. "We should be very reassured by this," he said, adding that the completion of these two independent efforts provides a rare opportunity to validate those findings immediately. Both teams estimate that the human genome contains just over 30,000 genes--far fewer than the 100,000 most anticipated. J. Craig Venter, president of Celera, emphasized that this low number suggests that people are not "hardwired" by their genes; in fact, environmental factors may be equally important. "The genome can give probabilities, not absolutes," said Venter, pointing out that even inherited diseases with a strong, single-gene component, such as cystic fibrosis, aren't perfectly predicted by genetics.
In April, representatives of both teams will meet to evaluate the different methods used to decipher the code. Such a comparison should help sequencers home in on the best strategy for sequencing additional genomes; already, said Collins, the line of potential organisms is long. Deciphering the genomes of additional organisms will help to make sense of the human genome, both Venter and Collins agreed. The mouse is already well under way: Indeed, today Celera announced its initial assembly of the mouse genome; unlike the human genome data, which are available without charge on Celera's Web site, the mouse genome will be available to subscribers only. The IHGSC expects to complete its draft of the mouse genome by April and will deposit the data in a public database.
Collins pointed out that although the job of interpreting the human genome is still in its early stages, researchers now know the bounds of the problem. He likened the new draft genomes to the publication of the periodic table of the elements. As that marked the beginning of chemistry, he said, today marks "the beginning of human biology."