Human Genome Data
The completion of the Human Genome Project (HGP) in April 2003 yielded a permanent foundation for biological research, and launched a new era in biomedicine. Elucidation and interpretation of the human genome is a work in progress at laboratories worldwide. Scientists in the Broad community are working to understand its organization and variation, and the roles these play in health and disease.
The goal of the HGP was to create a reference human genome sequence covering nearly the entire euchromatic genome and an error rate of ~1 in 10,000 bases. In fact, the final sequence covers 99% of the euchromatic genome with fewer than 350 gaps and has an error rate of ~1 in 100,000 bases. Work continues in various labs to close remaining gaps.
| Current Status | |
| Draft Genome Sequence | Released June 2000 |
| Finished Genome Sequence | 2.85 Gb, released April 2003 |
| Coverage | ~99% of the euchromatic genome |
| Remaining gaps | 341 |
| Accuracy | 1 error event per 100,000 bases |
| SNP collection | Mapped on Hg17, 10,054,521 SNPs |
| Haplotype Map | Current release 16c contains 1.1 M genotyped SNPs |
Human SNP Database
Human Haplotype Database
Scientific Publications
- International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15;409(6822):860-921
- International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature. 2004 Oct 21;431(7011):931-45.
- D. Altshuler, V.J. Pollara, C.R. Cowles, W.J. Van Etten, J. Baldwin, L. Linton, and E.S. Lander. An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature 407: 513-516 (2000).
- The International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928-933 (2001).
- D.E. Reich, M. Cargill, S. Bolk, J. Ireland, P.C. Sabeti, D.J. Richter, T. Lavery, R. Kouyoumjian, S.F. Farhadian, R. Ward, and E.S. Lander. Linkage disequilibrium in the human genome. Nature 411: 199-204 (2001).
- S.B. Gabriel, S.F. Schaffner, H. Nguyen, J. Higgins, J. Moore, J. Roy, M. DeFelice, B. Blumensteil, R. Ward, E.S. Lander, M.J. Daly, and D. Altshuler. The structure of haplotype blocks across the human genome and across populations. Science 296:2225-2229 (2002).
- P.C. Sabeti, D.E. Reich, J.M. Higgins, H.Z.P. Levine, D.J. Richter, S.F. Schaffner, S. B. Gabriel, J.V. Platko, N.J. Patterson, G.J. McDonald, H.C. Ackerman, S.J. Campbell, D. Altshuler, R. Cooper, D. Kwiatkowski, R. Ward, and E. S. Lander. Detecting recent positive selection in the human genome from haplotype structure. Nature 419: 832-837 (2002).
- The International HapMap Consortium. The International HapMap Project. Nature 426: 789-796 (2003).