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Human Genome Project

BioCodeKb - Bioinformatics Knowledgebase

The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.

The work of the Human Genome Project has allowed researchers to begin to understand the blueprint for building a person. As researchers learn more about the functions of genes and proteins, this knowledge will have a major impact in the fields of medicine, biotechnology, and the life sciences. The Human Genome Project aimed to map the entire genome, including the position of every human gene along the DNA strand, and then to determine the sequence of each gene’s base pairs. At the time, sequencing even a small gene could take months, so this was seen as a stupendous and very costly undertaking. Fortunately, biotechnology was advancing rapidly, and by the time the project was finishing it was possible to sequence the DNA of a gene in a few hours. Even so, the project took ten years to complete.

The Human Genome Project was a 13-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 15 years.

In May 1985, Robert Sinsheimer organized a workshop at the University of California, Santa Cruz, to discuss sequencing the human genome, but for a number of reasons the NIH was uninterested in pursuing the proposal. The following March, the Santa Fe Workshop was organized by Charles DeLisi and David Smith of the Department of Energy's Office of Health and Environmental Research (OHER). At the same time Renato Dulbecco proposed whole genome sequencing in an essay in Science. James Watson followed two months later with a workshop held at the Cold Spring Harbor Laboratory.

In February 2001, the publicly funded Human Genome Project and the private company Celera both announced that they had mapped virtually all of the human genome, and had begun the task of working out the functions of the many new genes that were identified. Scientists were surprised to find that humans only have around 25,000 genes, not much more than the roundworm Caenorhabditis elegans, and fewer than a tiny water crustacean called Daphnia, which has around 30,000. However, genome sequencing was making it clear that an organism's complexity is not necessarily related to its number of genes.

In April 2003, the 50th anniversary of the publication of the structure of DNA, the complete final map of the Human Genome was announced. The DNA from a large number of donors, women and men from different nations and of different races, contributed to this ‘typical’ Human Genome Sequence.

A major component of the HGP - and an ongoing component of NHGRI - is therefore devoted to the analysis of the ethical, legal and social implications (ELSI) of our newfound knowledge, and the subsequent development of policy options for public consideration.


  • identify all the approximately 20,500 genes in human DNA,

  • determine the sequences of the 3 billion chemical base pairs that make up human DNA,

  • store this information in databases,

  • improve tools for data analysis,

  • transfer related technologies to the private sector, and

  • address the ethical, legal, and social issues (ELSI) that may arise from the project.


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