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In June 2000, the international team announced a draft version of the human sequence, an assembly containing overlapping fragments that covered 90 per cent of the genome and that were sequenced in 'working draft' form, with some gaps and ambiguities. The team has now announced that the 'reference' human genome sequence has been established to an accuracy of 99.9 per cent, covering about 99 per cent of the gene-containing regions of the genome. Detailed analysis of the 3 billion base pairs of DNA in the human genome is continuing, with results being published on a chromosome-by-chromosome basis. Professor Allan Bradley, Director of the Wellcome Trust Sanger Institute (which has carried out nearly one-third of the work), said: "Completing the human genome is a vital step on a long road but the eventual health benefits could be phenomenal. "Just one part of this work – the sequencing of chromosome 20 – has already accelerated the search for genes involved in diabetes, leukaemia and childhood eczema. "We shouldn't expect immediate major breakthroughs but there is no doubt we have embarked on one of the most exciting chapters of the book of life." |
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