Moving On: Now the human genome is really done

Coinciding with celebrations of the 50th anniversary of the discovery of DNA’s double helix structure, an international consortium of scientists declared this week that the deciphering of the human genetic code is now truly complete.

In June 2000, prodded by the successful human-genome-sequencing effort of a biotech company, the publicly funded consortium reported to President Bill Clinton that it had finished a high-quality draft of the human genetic sequence (SN: 7/1/00, p. 4:

Human Genome Work Reaches Milestone). This week’s announcement reflects efforts since then to polish that draft by eliminating gaps in the recorded sequence of the so-called bases that make up DNA and increasing accuracy to the point where that sequence now has at most one mistake every 100,000 DNA bases.

The human-genome sequence produced by the consortium is “almost error free,” says Robert Waterston of Washington University in St. Louis.

The sequencing, which cost several billion dollars and took more than a decade, was finished “under budget and ahead of schedule,” says Francis S. Collins of the National Human Genome Research Institute in Bethesda, Md., one of the consortium’s leaders.

At a press conference announcing the completion of the project, Collins and other investigators outlined future genetic-research plans, such as investigating how much one person’s DNA varies from another’s.

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