Human Genome Project
U.S. Department of Energy

Research Goals

The completion of the human DNA sequence in the spring of 2003 coincided with the 50th anniversary of James Watson and Francis 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.

Goals and Completion Dates

AreaHGP GoalStandard AchievedDate Achieved
Functional AnalysisDevelop genomic-scale technologiesHigh-throughput oligonucleotide synthesis1994
Genetic Map2- to 5-cM resolution map (600 – 1,500 markers)1-cM resolution map (3,000 markers)September 1994
Functional AnalysisDevelop genomic-scale technologiesDNA microarrays1996
Physical Map30,000 STSs52,000 STSsOctober 1998
Functional AnalysisDevelop genomic-scale technologiesEukaryotic, whole-genome knockouts (yeast)1999
Functional AnalysisDevelop genomic-scale technologiesScale-up of two-hybrid system for protein-protein interaction2002
Capacity and Cost of Finished SequenceSequence 500 Mb/year at < $0.25 per finished baseSequence >1,400 Mb/year at <$0.09 per finished baseNovember 2002
Human Sequence Variation100,000 mapped human SNPs3.7 million mapped human SNPsFebruary 2003
Gene IdentificationFull-length human cDNAs15,000 full-length human cDNAsMarch 2003
Model OrganismsComplete genome sequences of E. coli, S. cerevisiae, C. elegans, D. melanogasterFinished 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 ratApril 2003
DNA Sequence95% of gene-containing part of human sequence finished to 99.99% accuracy99% of gene-containing part of human sequence finished to 99.99% accuracyApril 2003

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