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Human genome: The end of the beginning
18 November 2006 by Andy Coghlan and Nell Boyce
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This is a classic article from New Scientist's archive, republished as part of our 50th anniversary celebrations
IT TOOK more than a decade of effort, but Monday 26 June 2000 will be remembered as the day when humankind learned, in a sense, what it is to be human. Heads of government and Nobel laureates came together to hail the "working draft" of the human genome: the set of genetic instructions which governs the assembly and function of all human beings.
There may still be holes to fill in, and the raw genetic information presented this week may take decades to decipher fully, but for researchers across the globe Monday was a day for celebration. "This is the most wondrous map ever produced by mankind," Bill Clinton said at the White House. In another, video-linked press conference in London, Tony Blair called the sequencing of the human genome "a breakthrough that opens the way for massive advancement in the treatment of cancer and hereditary diseases, and that is only the beginning".
The scale of this triumph is awesome. The 24 different human chromosomes may be too small for the eye to see, but together they contain 3.1 billion base pairs. Reading this "book" took the combined efforts of thousands of researchers and hundreds of robotic sequencing machines. Each machine prepares DNA samples, runs them through electrophoresis gels, and reads off the results into a database.
Staggering statistics and engineering feats were not the only things drawing attention to the human genome effort in recent months. This was amply demonstrated by the fact that Francis Collins, director of the National Human Genome Research Institute near Washington DC and head of the Human Genome Project, was not the only person next to Clinton on Monday. At the president's other shoulder was Craig Venter, the entrepreneur who two years ago formed the sequencing company Celera Genomics and set out to be the first to sequence the human genome.
Before Venter's intervention, the $300 million, publicly funded effort, which began in 1990, had set itself a completion date of 2005. Venter upped the stakes by saying that Celera, based in Rockville, Maryland, would sequence the lot by 2001.
Fearing that Venter would keep the data secret and attempt to monopolise it by patenting genes, the publicly funded researchers redoubled their efforts and maintained their policy of putting sequence data onto the web the moment it was obtained, with free access for all. As a result, the human genome effort became a race.
Although competitive, the two sides eventually agreed to make a simultaneous announcement. The research groups were excited by such things as the fact that they had found strikingly similar figures for the total number of base pairs in the genome - 3.15 billion base pairs versus Celera's 3.12 billion. "Our numbers are so close," says Eric Lander, director of the Whitehead Institute Center for Genome Research in Boston.
Some 12 per cent of the genome remains unsequenced, and only 24 per cent has been checked as being fully accurate. "We'd always said when the rough draft was ready, it would be released," says Mike Dexter, director of the Wellcome Trust, the London-based charity which pumped $120 million into the public project. What makes the publicly funded working draft "ready" is the fact that the gene fragments overlap to form a gene map reaching from tip to tip of every chromosome.
The next job is to continue sequencing and fill in the gaps to complete what will become a "gold standard" reference genome by 2003.
Interpreting this vast store of raw genetic data remains a huge task, however. Collins says that in the past six months, scientists have identified a dozen different disease-related genes using the public database on the internet. The current total of known genes is 38,000.
This article was originally published in New Scientist on 1 July 2000
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