Human Genome Project history

Background to big biology

The idea of sequencing the entire human genome was first proposed by biomedical researchers in the mid-1980s, only a few years after the Sanger method of sequencing DNA had been developed. Two organizations in the United States took up these proposals: the first organization was the Department of Energy, which was interested in finding out more about the damage caused to DNA by radiation. The second was the National Institutes of Health, which receives money from the US government to give to medical research projects. By October 1990, these two organizations had put together a plan to begin work on the human genome. Work in the United Kingdom focused initally on mapping the human and nematode worm (Caenorhabditis elegans) genomes but, in 1992, the Wellcome Trust and the Medical Research Council agreed to fund sequencing on a larger scale. This led them to establish the Sanger Centre (now the Wellcome Trust Sanger Institute).

The plan to determine the complete human genome sequence by an international consortium was then outlined during 1995. The strategy was to create a publicly available map of overlapping segments of DNA (cloned into bacterial chromosomes) before sequencing and assembly of the pieces. Work could then proceed in parallel on all the chromosomes; for most chromosomes the work was shared between multiple centres. Each segment was sequenced and assembled to yield a sequence that is 99.99% accurate (less than 1 error in 10,000).

The Sanger Institute was initially funded to sequence one sixth of the genome, which was increase to one third of the human genome (1000 Mb) in 1998. The Institute's effort was been focused on chromosomes 1, 6, 9, 10, 13, 20, 22 and X (some of which were shared with other centres). The finished sequence - the 'gold standard' - was announced in 2003 and published in 2004.