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
| Area | HGP Goal | Standard Achieved | Date Achieved |
|---|---|---|---|
| Functional Analysis | Develop genomic-scale technologies | High-throughput oligonucleotide synthesis | 1994 |
| Genetic Map | 2- to 5-cM resolution map (600 – 1,500 markers) | 1-cM resolution map (3,000 markers) | September 1994 |
| Functional Analysis | Develop genomic-scale technologies | DNA microarrays | 1996 |
| Physical Map | 30,000 STSs | 52,000 STSs | October 1998 |
| Functional Analysis | Develop genomic-scale technologies | Eukaryotic, whole-genome knockouts (yeast) | 1999 |
| Functional Analysis | Develop genomic-scale technologies | Scale-up of two-hybrid system for protein-protein interaction | 2002 |
| 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 |
| 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 |
Source: Science 300, 286 (2003) 10.1126/science.1084564