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U.S. Human Genome Project Research Goals

The completion of the human DNA sequence in the spring of 2003 coincided with the 50th anniversary of Watson and Crick's description of the fundamental structure of DNA. The analytical power arising from the reference DNA sequences of entire genomes and other genomics resources has jump-started what some call the "biology century."

The Human Genome Project was marked by accelerated progress. In June 2000, the rough draft of the human genome was completed a year ahead of schedule. In February 2001, the working draft was completed, and special issues of Science and Nature containing the working draft sequence and analysis were published. Additional papers were published in April 2003 when the project was completed.

The project's first 5-year plan, intended to guide research in FYs 1990-1995, was revised in 1993 due to unexpected progress, and the second plan outlined goals through FY 1998. The third and final plan [Science, 23 October 1998] was developed during a series of  DOE and NIH workshops. Some 18 countries have participated in the worldwide effort, with significant contributions from the Sanger Center in the United Kingdom and research centers in Germany, France, and Japan.

Human Genome Project Goals and Completion Dates

Area HGP Goal Standard Achieved Date Achieved
Genetic Map 2- to 5-cM resolution map (600 – 1,500 markers) 1-cM resolution map (3,000 markers) September 1994
Physical Map 30,000 STSs 52,000 STSs October 1998
DNA Sequence 95% of gene-containing part of human sequence finished to 99.99% accuracy 99% of gene-containing part of human sequence finished to 99.99% accuracy April 2003
Capacity and Cost of Finished Sequence Sequence 500 Mb/year at < $0.25 per finished base Sequence >1,400
Mb/year at <$0.09 per finished base
November 2002
Human Sequence Variation 100,000 mapped human SNPs 3.7 million mapped human SNPs February 2003
Gene Identification Full-length human cDNAs 15,000 full-length human cDNAs March 2003
Model Organisms Complete genome sequences of
E. coli, S. cerevisiae, C. elegans, D. melanogaster
Finished genome sequences of E. coli, S. cerevisiae, C. elegans, D. melanogaster, plus whole-genome drafts of several others, including C. briggsae, D. pseudoobscura, mouse and rat April 2003
Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide synthesis 1994
DNA microarrays 1996
Eukaryotic, whole-genome knockouts (yeast)
1999
Scale-up of two-hybrid system for protein-protein interaction 2002

Source: Science 300, 286 (2003)
10.1126/science.1084564


Archival Documents

Five-Year Plans

5-Year Planning Workshops

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.