This time it is the real thing, scientists promise 鈥� the complete sequence of human DNA, as perfectly rendered as it ever will be.
Much publicity was given to the announcements of the draft human genome, and then its formal publication, but the final version will be officially launched on Monday in Washington DC.
鈥淲hat we鈥檝e got now is what we鈥檒l have for all eternity,鈥� says Francis Collins, director of the US National Human Genome Research Institute and the head of the consortium of 16 international institutions that collaborated to sequence the code.
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Now, there are no substantial holes left in the string of three billion base units that make up our chromosomes and determine our biology. There are still parts that are technically unsequenceable, says Collins, 鈥渂ut it鈥檚 only about 1.5 per cent. That鈥檚 what we called the finishing line when we began this enterprise, and now we鈥檝e actually done it.鈥�
Highly polished
The largest single contributor to the project was the UK鈥檚 Wellcome Trust Sanger Institute, which carried out nearly one-third of the work. Its director, Allan Bradley, says: 鈥淐ompleting the human genome is a vital step on a long road but the eventual health benefits could be phenomenal.
鈥淛ust one part of this work 鈥� the sequencing of chromosome 20 鈥� has already accelerated the search for genes involved in diabetes, leukaemia and childhood eczema,鈥� he notes.
Jane Rogers, head of sequencing at the Sanger Institute says: 鈥淭he working draft allowed researchers to kick-start a multitude of biomedical projects. Now they have a highly polished end product, which will assist them even more. It鈥檚 a bit like moving from a first-attempt demo music tape to a classic CD.鈥�
The raw sequence is freely available on the web. But researchers will have to wait up to a year for the first analysis of it. 鈥淲e鈥檙e still discussing the timing on this,鈥� Collins says. A broad analysis could be published, or detailed chromosome-by-chromosome papers could be released.
In a forward-looking article to be published in Nature on Thursday, Collins says that as analyses roll in of our genes and the proteins they produce, we need to avoid the patenting controversies that dogged the task of sequencing. 鈥淲e may be headed for a re-run if we鈥檙e not careful, and this time we need to be more pro-active鈥� in pre-empting trouble, he says.
