Human Genome Project Goals

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U.S. Human Genome Project Research Goals

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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:

Third 5-Year Plan (1998-2003)
- Highlights
- Detailed List of Goals
- Plan as presented in the October 23, 1998 Science
- Oct. 1999 HGN article about plan acceleration: HGP Leaders Confirm Accelerated Timetable for Draft Sequence
Second 5-Year Research Goals of the U.S. Human Genome Project (FY 1993-1998)
Original 5-Year Research Goals (FY 1990-1995)

Synopsis of Original 5-Year Research Goals

Timeline of Major Events in the U.S. Human Genome Project and Related Projects

5-Year Planning Workshops:

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Last modified: Monday, May 12, 2008

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