Landmark HGP Papers

General Human Genome Project Papers

Mapping and sequencing of structural variation from eight human genomes, Nature, May 1, 2008
Identification and Analysis of Function Elements in 1% of the Human Genome by the ENCODE Pilot Project, Nature, June 14 2007
Finishing the euchromatic sequence of the human genome, Nature, Oct. 21, 2004
Human genome: Quality assessment of the human genome sequence. Nature, 429, 365-368 (27 May 2004)
Building on the DNA revolution, April 11, 2003 entire issue of Science with insights from the completion of the HGP finished sequence
Double helix at 50, April 24, 2003 entire issue of Nature with insights from the completion of the HGP finished sequence
The human genome Feb.16, 2001, entire issue of Science with insights from the completion of the HGP and Celera working draft
The human genome Feb.15, 2001, entire issue of Nature with insights from the completion of the HGP working draft

Individual Chromosome Papers

Nature Human Genome Collection, composite of all the human chromosome papers, 2006.
Human Chromosome 1 Completed, May 2006.
Human Chromosome 3 Completed, April 2006.
Human Chromosome 17 Completed, April 2006.
Human Chromosome 11 Completed, March 2006.
Human Chromosome 12 Completed, March 2006.
Human Chromosome 15 Completed, March 2006.
Human Chromosome 8 Completed, January 2006.
Human Chromosome 4 Completed, April 2005.
Human Chromosome 2 Completed, April 2005.
Human Chromosome X Completed, March 2005.
Human Chromosome 16 Completed, December 2004.
Human Chromosome 5 Completed, September 2004.
Human Chromosome 9 Completed, May 2004.
Human Chromosome 10 Completed, May 2004.
Human Chromosome 18 Completed, March 2004.
Human Chromosome 19 Completed, March 2004.
Human Chromosome 13 Completed, March 2004.
Human Chromosome 6 Completed, October 2003.
Human Chromosome 7 Completed, July 2003.
Human Chromosome Y Completed, June 2003.
Human Chromosome 14 Completed, January 2003.
- GNN article Human Chromosome 14, January 2003.
Human Chromosome 20 Completed, December 2001.
Human Chromosome 21 Completed, May 2000
Human Chromosome 22 Completed, December 1999
- Human Chromosome 22 Completed: First Human Chromosome to be Sequenced, December 1999

Papers from 2003 and 2001 Science and Nature Special HGP Completion Issues [Free Access]

The April 11, 2003 issue of Science and the April 24, 2003 issue of Nature (see also: special web focus) presented a special collection of news, viewpoints, and other articles to celebrate the 50th anniversary of one of the signpost events of modern biology — the publication of the structure of DNA — and the new directions in molecular biology that the double-helix discovery has marked out in the subsequent half-century.

The first analyses of the working draft human genome sequence were reported in the February 16, 2001 issue of Science and February 15, 2001 issue of Nature. The papers from Nature included initial sequence analyses generated by the publicly sponsored Human Genome Project, while Science publications focused on the draft sequence reported by the private company, Celera Genomics.

Because of the importance of these landmark papers, both Science and Nature have provided free and unrestricted access to all articles. An index and links follow.

2003 HGP Completion Papers

Introduction. Barbara R. Jasny and Leslie Roberts. Science Apr 11 2003: 277 Full Text

The Human Genome Project: Lessons from Large-Scale Biology. Francis S. Collins, Michael Morgan, Aristides Patrinos. Science Apr 11 2003: 286 Full Text

Realizing the Potential of the Genome Revolution: The Genomes to Life Program. Marvin E. Frazier, Gary M. Johnson, David G. Thomassen, Carl E. Oliver, Aristides Patrinos. Science Apr 11 2003: 290 Full Text

A Vision for the Future of Genomics Research. Francis S. Collins, Eric D. Green, Alan E. Guttmacher, Mark S. Guyer. A blueprint for the genomic era. Nature Apr 24 2003: 835. Full Text

Genetics and the Making of Homo sapiens. Sean B. Carroll. Nature Apr 24 2003: 849 Full Text

Genome Sequencing: Revelations from a Bread Mould. Jonathan Arnold, Nelson Hilton. Nature Apr 24 2003: 821. Full Text

Genome Sequence and Analysis Papers

A physical map of the human genome. The International Human Genome Mapping Consortium. Nature 409, 934-941 (15 February 2001) Full Text

The sequence of the human genome. The Celera Genomics Sequencing Team. Science Feb 16 2001: 1304-1351. Full Text

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. D. R. Bentley, et al. Nature 409, 942-943 (15 February 2001) Full Text

A physical map of the human Y chromosome. Charles A. Tilford, et al. Nature 409, 943-945 (15 February 2001) Full Text

A high-resolution map of human chromosome 12. Kate T. Montgomery, et al. Nature 409, 945-946 (15 February 2001) Full Text

A physical map of human chromosome 14. Thomas Brüls, et al. Nature 409, 947-948 (15 February 2001) Full Text

Integration of telomere sequences with the draft human genome sequence. H. C. Riethman, et al. Nature 409, 948-951 (15 February 2001) Full Text

Comparison of human genetic and sequence-based physical maps. Adong Yu, et al. Nature 409, 951-953 (15 February 2001) Full Text

Integration of cytogenetic landmarks into the draft sequence of the human genome. V. G. Cheung, et al. Nature 409, 953-958 (15 February 2001) Full Text

Mining the draft human genome. Ewan Birney, et al. Nature 409, 827-828 (15 February 2001) Full Text

Keeping time with the human genome. Jonathan D. Clayton, et al. Nature 409, 829-831 (15 February 2001) Full Text

Expressing the human genome. Rossella Tupler, et al. Nature 409, 832-833 (15 February 2001) Full Text

Functional annotation of mouse genome sequences. Joseph H. Nadeau, et al. Science Feb 16 2001: 1251-1255. Full Text

A genomic perspective on membrane compartment organization. Jason B. Bock, et al. Nature 409, 839-841 (15 February 2001) Full Text

Genomics, the cytoskeleton and motility. Thomas D. Pollard. Nature 409, 842-843 (15 February 2001) Full Text

Can sequencing shed light on cell cycling? Andrew W. Murray, et al. Nature 409, 844-846 (15 February 2001) Full Text

Evolutionary analyses of the human genome. Wen-hsiung Li, et al. Nature 409, 847-849 (15 February 2001) Full Text

Experimental annotation of the human genome using microarray technology. D. D. Shoemaker, et al. Nature 409, 922-927 (15 February 2001) Full Text

Guide to the draft human genome. Tyra G. Wolfsberg, et al. Nature 409, 824-826 (15 February 2001) Full Text

Analysis of the Genome Papers —what other scientists are saying

What if there are only 30,000 human genes? Jean-Michel Claverie. Science Feb 16 2001: 1255-1257. Full Text

Making sense of the sequence. David J. Galas. Science Feb 16 2001: 1257-1260. Full Text

Our genome unveiled. David Baltimore. Nature 409, 814-816 (15 February 2001) Full Text

Genome speak. Peer Bork, et al. Nature 409, 815 (15 February 2001) Full Text

The maps: Clone by clone by clone. Maynard V. Olson. The public project’s sequencing strategy involved producing a map of the human genome and then pinning sequence to it. This helps to avoid errors in the sequence, especially in repetitive regions. Nature 409, 816-818 (15 February 2001) Full Text

The draft sequences: Filling in the gaps. Peer Bork, et al. Nature 409, 818-820 (15 February 2001) Full Text

The draft sequences: Comparing species. Gerald M. Rubin. Nature 409, 820-821 (15 February 2001) Full Text

Medicine and the New Genomics

Dissecting human disease in the postgenomic era. Leena Peltonen and Victor A. McKusick. Science Feb 16 2001: 1224-1229. Full Text

…to a future of genetic medicine. Aravinda Chakravarti. Nature 409, 822-823 (15 February 2001) Full Text

A genomic view of immunology. Aude M. Fahrer, et al. Nature 409, 836-838 (15 February 2001) Full Text

Cancer and genomics . P. Andrew Futreal, et al. Nature 409, 850-852 (15 February 2001). Full Text

Human disease genes. Gerardo Jimenez-Sanchez, et al. Nature 409, 853-855 (15 February 2001) Full Text

SNPs

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. The International SNP Map Working Group. Nature 409, 928-933 (15 February 2001) Full Text

Single nucleotide polymorphisms: From the evolutionary past. Mark Stoneking. Nature 409, 821-822 (15 February 2001) Full Text

Behavioral Genomics

Toward behavioral genomics. Peter McGuffin, et al. Science Feb 16 2001: 1232-1249. Full Text

Learning about addiction from the genome. Eric J. Nestler, et al. Nature 409, 834-835 (15 February 2001) Full Text

Bioinformatics

Bioinformatics–Trying to swim in a sea of data. David S. Roos. Science Feb 16 2001: 1260-1261. Full Text

Computational comparison of two draft sequences of the human genome. John Aach, et al. Nature 409, 856-859 (15 February 2001) Full Text

Are you ready for the revolution? Declan Butler. Nature 409, 758-760 (15 February 2001) Full Text

Ethical, Legal, and Social Issues

The human genome and our view of ourselves. Svante Pääbo. Science Feb 16 2001: 1219-1220. Full Text

Political issues in the genome era. James M. Jeffords and Tom Daschle. Science Feb 16 2001: 1249-1251. Full Text

What’s Next? Future

Proteomics in genomeland. Stanley Fields. Science Feb 16 2001: 1221-1224. Full Text

Watching genes build a body. Gretchen Vogel. Science Feb 16 2001: 1181. Full Text

What’s next for the genome centers?. Elizabeth Pennisi. Science Feb 16 2001: 1204-1207. Full Text

Hunting for collaborators of killer toxins. Jocelyn Kaiser. Science Feb 16 2001: 1207. Full Text

Public vs Private / Biotechnology Industry

The human genome. Elizabeth Pennisi. Science Feb 16 2001: 1177-1180. Full Text

Comparison shopping. Eliot Marshall. Science Feb 16 2001: 1180-1181. Full Text

Genomania meets the bottom line. David Malakoff and Robert F. Service. Science Feb 16 2001: 1193-1203. Full Text

Can data banks tally profits?. Robert F. Service. Science Feb 16 2001: 1203. Full Text

Will a smaller genome complicate the patent chase?. David Malakoff. Science Feb 16 2001: 1194. Full Text

History of the Project

Controversial from the start. Leslie Roberts. Science Feb 16 2001: 1182-1188. Full Text

Sidebars
Objection #1: Big biology is bad biology. Robert F. Service. Science Feb 16 2001: 1182. Full Text
Finding the talismans that protect against infection. Martin Enserink. Science Feb 16 2001: 1183. Full Text
Objection #2: Why sequence the junk?. Gretchen Vogel. Science Feb 16 2001: 1184. Full Text
Unsung heroes. Science Feb 16 2001: 1207. Full Text
Nailing down cancer culprits. Jean Marx. Science Feb 16 2001: 1185. Full Text
Objection #3: Impossible to do. Robert F. Service. Science Feb 16 2001: 1186. Full Text
A parakeet genome project?. Gretchen Vogel. Science Feb 16 2001: 1187. Full Text
Brain calls dibs on many genes. Laura Helmuth. Science Feb 16 2001: 1188. Full Text
Sharing the glory, not the credit. Eliot Marshall. Science Feb 16 2001: 1189-1193. Full Text
Celera and Science spell out data access provisions. Eliot Marshall. Science Feb 16 2001: 1191. Full Text
Bermuda rules: Community spirit, with teeth. Eliot Marshall. Science Feb 16 2001: 1192. Full Text

A history of the human genome project. Leslie Roberts, et al. Science Feb 9 2001: 1195. Full Text

In their own words. Science Feb 9 2001: 1196. Full Text

What a long, strange trip it’s been. Nature 409, 756 – 757 (15 February 2001) Full Text

Editorials

The human genome. Editorial by Barbara R. Jasny and Donald Kennedy. Science Feb 16 2001: 1153 Summary

Human genomes, public and private. Editorial. Nature Feb 15 2001: 409. Full Text

Other

Molecular structure of nucleic acids: A structure for deoxyribose nucleic acid. J.D. Watson & F. H. C. Crick. Nature 171, 737-734 (1953) Full Text

Science genome map. Science Feb 16 2001: 1218. Full Text

Funny genes / The DNA vault / Genome hubs / Genomes for all. Science Feb 16 2001: 1163