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• Human Genome Project --answers to the who, what, when, why, and how much of the Project
• Benefits and Implications of Genome Research --information about Project benefits, the ethical, legal, and social issues associated with the project, gene testing, and medicine
• Genetics --answers to whose genome is being used, what's a genome, how big is a genome, what is model organism research, what is cloning, where can I find out about a particular disease, and other questions

The Human Genome Project (HGP) is an international 13-year effort formally begun in October 1990. The project was planned to last 15 years, but rapid technological advances accelerated the completion to 2003. Project goals were to determine the complete sequence of the 3 billion DNA subunits (bases), identify all human genes, and make them accessible for further biological study. As part of the HGP, parallel sequencing was done for selected model organisms such as the bacterium E. coli to help develop the technology and interpret human gene function. The Department of Energy's Human Genome Program and the National Institutes of Health's National Human Genome Research Institute (NHGRI) together sponsored the U.S. Human Genome Project.

For more information, see About the Human Genome Project.

The Department of Energy's Human Genome Program research was directed by Ari Patrinos, head of the Office of Biological and Environmental Research. Francis Collins directed the National Institutes of Health National Human Genome Research Institute efforts.

Q. Who are some important contributors to genetics?

Many people have contributed to the field of genetics. See the Important Contributors to Genetics page for five of them.

Q. How far along is the project? How many genes have been identified?

Final HGP papers were published in 2006. A high-quality, "finished" sequence of the human genome was completed in 2003. (The first working draft was completed In June 2000.) In- depth analyses of complete chromosomes continue to be published. See the Human Genome Project Progress Web page for updates.

See also related FAQ on our Sequencing Fact Sheet.: "In May 2006, Human Genome Project (HGP) researchers announced the completion of the DNA sequence for the last of the 24 human chromosomes. How does this differ from the finished human genome announced by HGP researchers in 2003?"

See the Human Genome Project Goals Web page for a look at project goals and corresponding five-year plans.

Many laboratories around the United States received funding from either the Department of Energy (DOE), the National Institutes of Health (NIH), or both, for Human Genome Project research. A list of the major U.S. and international Human Genome Project research sites can be found here.

Other researchers at numerous colleges, universities, and laboratories throughout the United States also received DOE and NIH funding for human genome research. At any given time, the DOE Human Genome Program funded about 200 separate principal investigators.

Many private companies have also been conducting genome research. For more on this, see the HGP and the Private Sector Fact Sheet.

At least 18 countries have established human genome research programs. Some of the larger programs are in Australia, Brazil, Canada, China, Denmark, European Union, France, Germany, Israel, Italy, Japan, Korea, Mexico, Netherlands, Russia, Sweden, United Kingdom, and the United States. Some developing countries are participated through studies of molecular biology techniques for genome research and studies of organisms that are particularly interesting to their geographical regions. The Human Genome Organisation (HUGO) helped to coordinate international collaboration in the genome project.

A list of major U.S. and international Human Genome Project research sites can be found here.

Completing the genome sequence is just the first step. See a list of post-sequencing research challenges on the Sequencing Fact Sheet.

See an index of the primary papers published about the sequence and a list of insights learned from this information.

See the joint DOE-NIH Budget of the Human Genome Project.

See the answer on the Department of Energy and the HGP Fact Sheet.

Q. What DOE investments improved the efficiency of Human Genome Project research by reducing costs, speeding progress, furthering technology?

See the answer on the Department of Energy and the HGP Fact Sheet.

Q. What are the potential benefits of human genome research?

The project will reap fantastic benefits for humankind, some that we can anticipate and others that will surprise us. Generations of biologists and researchers have been provided with detailed DNA information that will be key to understanding the structure, organization, and function of DNA in chromosomes. Genome maps of other organisms will provide the basis for comparative studies that are often critical to understanding more complex biological systems. Information generated and technologies developed are revolutionizing future biological explorations.

For details about the applications of human genome project research, see Potential Benefits of Human Genome Project Research.

Click here to see a poster depicting resources gained from Human Genome Project research.

The DOE and NIH genome programs set aside 3% to 5% of their respective total annual budgets for the study of the project's ethical, legal, and social issues (ELSI). For an in-depth look at the ELSI surrounding the project, see Ethical, Legal, and Social Issues (ELSI) of the Human Genome Project.

See the answer on our Privacy and Legislation Web page.

See the answer on our Patenting Web page.

See the answer on our Gene Testing Web page.

See the answer on our Behavioral Genetics Web page.

See the answer on our DNA Forensics page.

Q. How will the Human Genome Project impact medicine?

See the answer on our Medicine and the New Genetics Web page.

Use the guides and tutorials available through Gene Gateway.

See the answer on our Gene Therapy Web page.

See the answer on our Pharmacogenomics Web page.

See the answer on our Genetic Counseling Web page.

Q. What's a genome? And why is it important?

A genome is all the DNA in an organism, including its genes. Genes carry information for making all the proteins required by all organisms. These proteins determine, among other things, how the organism looks, how well its body metabolizes food or fights infection, and sometimes even how it behaves.

DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are repeated millions or billions of times throughout a genome. The human genome, for example, has 3 billion pairs of bases.

The particular order of As, Ts, Cs, and Gs is extremely important. The order underlies all of life's diversity, even dictating whether an organism is human or another species such as yeast, rice, or fruit fly, all of which have their own genomes and are themselves the focus of genome projects. Because all organisms are related through similarities in DNA sequences, insights gained from nonhuman genomes often lead to new knowledge about human biology.

The human genome is made up of DNA, which has four different chemical building blocks. These are called bases and abbreviated A, T, C, and G. In the human genome, about 3 billion bases are arranged along the chromosomes in a particular order for each unique individual. To get an idea of the size of the human genome present in each of our cells, consider the following analogy: If the DNA sequence of the human genome were compiled in books, the equivalent of 200 volumes the size of a Manhattan telephone book (at 1000 pages each) would be needed to hold it all.

It would take about 9.5 years to read out loud (without stopping) the 3 billion bases in a person's genome sequence. This is calculated on a reading rate of 10 bases per second, equaling 600 bases/minute, 36,000 bases/hour, 864,000 bases/day, 315,360,000 bases/year.

Storing all this information is a great challenge to computer experts known as bioinformatics specialists. One million bases (called a megabase and abbreviated Mb) of DNA sequence data is roughly equivalent to 1 megabyte of computer data storage space. Since the human genome is 3 billion base pairs long, 3 gigabytes of computer data storage space are needed to store the entire genome. This includes nucleotide sequence data only and does not include data annotations and other information that can be associated with sequence data.

As time goes on, more annotations will be entered as a result of laboratory findings, literature searches, data analyses, personal communications, automated data-analysis programs, and auto annotators. These annotations associated with the sequence data will likely dwarf the amount of storage space actually taken up by the initial 3 billion nucleotide sequence. Of course, that's not much of a surprise because the sequence is merely one starting point for much deeper biological understanding!

Contributions to this answer were made by Morey Parang and Richard Mural formerly of Oak Ridge National Laboratory; and Mark Adams formerly of The Institute of Genome Research.

The current consensus predicts about 20,000-25,000 genes, but not all genome scientists agree. For more information, see the Web page that addresses this question.

See answer on the Facts About Genome Sequencing page.

See the online poster, Human Genome Landmarks: Selected Traits and Disorders Mapped to Chromosomes. This poster provides chromosome-by-chromosome maps of some of the genes, traits, and disorders that have been linked to each chromosome. These maps were generated using the Online Mendelian Inheritance in Man database.

The Human Genome Map Viewer available through the National Center for Biotechnology (NCBI) is another resource that you can use to browse the genome. See an introductory tutorial on using NCBI's Map Viewer to find a gene on a chromosome map.

See the answer on the Facts About Genome Sequencing page.

See the answer on the Functional and Comparative Genomics Fact Sheet.

See the answer on the Functional and Comparative Genomics Fact Sheet.

Q. What are the comparative genome sizes of humans and other organisms being studied?

See the answer on the Functional and Comparative Genomics Fact Sheet.

Nearly half of the human genome is composed of transposable elements or jumping DNA. First recognized in the 1940s by Dr. Barbara McClintock in studies of peculiar inheritance patterns found in the colors of Indian corn, jumping DNA refers to the idea that some stretches of DNA are unstable and "transposable," i.e., they can move around—on and between chromosomes.

This theory was confirmed in the 1980s when scientists observed jumping DNA in other genomes. Now scientists believe transposons may be linked to some genetic disorders such as hemophilia, leukemia, and breast cancer. They also believe that transposons may have played critical roles in human evolution.

McClintock received a Nobel prize in 1983 for her discovery—making her one of only two women ever to receive an unshared Nobel prize in science. The other was Marie Curie.

To learn more about McClintock and her research, see

• Barbara McClintock [National Academy of Sciences bio]
• Barbara McClintock [Cold Spring Harbor Laboratory bio]

See the answer on the Cloning fact sheet Web page.