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Human Genome Project

Human Genome Project

The Human Genome Project (HGP), managed by the National Human Genome Research Institute (NHGRI), completed sequencing the human genome in 2003 and made it freely available to scientists and researchers. The mission of the HGP has expanded to seek understanding of functional components of the genome and role of the genome in health and disease.

In 1990 the National Institutes of Health (NIH) and Department of Energy (DOE) joined with partners internationally with the goal of sequencing the entire human genome of 3 billion base pairs and the project was called the Human Genome Project. The NHGRI formed to manage the role of NIH in the HGP, funded research in related areas and together with the Division of Extramural Research (DER) set scientific priorities for HGP research.

Physician-geneticist Francis S. Collins was director of NHGRI from 1993 and lead the HGP to completion. He oversaw the collaboration between multidisciplinary, multi-institutional and international teams of researchers to map and sequence the human genome.

J. Craig Venter is a biochemist-geneticist who received private funding to independently map and sequence human DNA. In 1998 Venter became president and CEO of Celera Genomics which initially raced against the HGP to be first to sequence the human genome. Venter developed a sequencing strategy of tagging and partially sequencing genes, “expressed sequence tags”. Collins and Venter began to cooperate around 2000 when U.S. President Bill Clinton and British Prime Minister Tony Blair jointly declared that genome information should be free to the public.

The HGP is a useful reference that has accelerated the discovery of genes, disease-causing mutations and the development of diagnostic tests and therapeutics to treat diseases. The human genome is still not completely understood and current research aims to further understand how all the parts of the human genome, such as genes, gene regulatory elements and the structural organization of DNA and genes within the nucleus of the cell, work together in healthy or diseased states.


Further Resources


The Human Genome Project | Genetics | Biology | FuseSchool


February 4, 2020

The Human Genome Project pieced together only 92% of the DNA - now scientists have finally filled in the remaining 8%

Gabrielle Hartley


March 31, 2022


Xavier Bofill de Ros
April 16, 2021
The first draft of the human genome was published 20 years ago in 2001, took nearly three years and cost between US$500 million and $1 billion. The Human Genome Project has allowed scientists to read, almost end to end, the 3 billion pairs of DNA bases--or "letters"--that biologically define a human being.
Megan Molteni
December 30, 2020
Eric Green, head of the nation's top genomics research institute, looks back on how far the field has come and shares his bold vision for the future.
Robin McKie
June 21, 2020
the Guardian
'A mission to unravel the molecular essence of humanity': a computer illustration of human X chromosomes. Illustration: Sebastian Kaulitzki/Getty Images/Science Photo Library
Suraj Patel
April 7, 2020
Scientific American Blog Network
This moment of crisis calls for the United States to rediscover its powers of discovery
Libby Copeland
March 2, 2020
In her book The Lost Family, Libby Copeland explores the confusing landscape of DNA testing and lays out the limits of looking to your genes for answers.


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