For this first draft of the human genome the Genome Institute played an integral part in achieving this goal, contributing more than 20% of the draft sequence, and developing a comprehensive BAC clone map of the human genome. In addition, we have identified more than 300,000 single nucleotide polymorphisms or SNP's, as a member of the SNP Consortium. Recently, a revised assembly of the human genome was made available to the community. This latest iteration of the human genome assembly represents a continuation of an extensive effort to identify and sequence gaps and fix errant sequence assignments. The culmination of this effort was published in the journal Nature, 2004.
The Human Genome Project (HGP) was launched in the US in 1990 and jointly funded by the National Institutes of Health and the Department of Energy. The announcement of the completion of the draft sequence of the human genome in June, 2000, and the subsequent publication in Nature in February, 2001, marked an important milestone for the HGP. For the first time, scientists were able to view the features of our own instruction manual in relation both to one another and to the whole.
The Genome Institute has taken a lead role in the characterization of human chromosomes 2, 4, 7 and Y with subsequent publications for all. A recent extension to human whole genome characterization has been the HapMap project, which would not have been possible without the available template, the human genome sequence. Additionally, medical sequencing and structural variation studies of the human genome are underway or being planned. These projects promise to provide essential information regarding some specific regions of the human genome associated with disease pathogenesis or susceptibility, and again demonstrate the prudence of investing in the sequencing of the human genome.