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Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by
the U.S. Department of Energy and the National Institutes of Health. The project originally was
planned to last 15 years, but rapid technological advances accelerated the completion date to 2003.
Project goals were to
To help achieve these goals, researchers also studied the genetic makeup of several nonhuman
organisms. These include the common human gut bacterium Escherichia coli, the fruit fly, and the
laboratory mouse.
Besides delivering on the stated goals, the international network of researchers has produced an
amazing array of advances that most scientists had not expected until much later. These "bonus"
accomplishments include: an advanced draft of the mouse genome sequence, published in
December 2002; an initial draft of the rat genome sequence, produced in November 2002; the
identification of more than 3 million human genetic variations, called single nucleotide
polymorphisms (SNPs); and the generation of full-length complementary DNAs (cDNAs) for more
than 70 percent of known human and mouse genes.
Timeline & Cost
When the Human Genome Project was launched in 1990, many in the scientific community
were deeply skeptical about whether the project’s audacious goals could be achieved, particularly
given its hard-charging timeline and relatively tight spending levels. At the outset, the U.S.
Congress was told the project would cost about $3 billion in FY 1991 dollars and would be
completed by the end of 2005. In actuality, the Human Genome Project was finished two and a half
years ahead of time and, at $2.7 billion in FY 1991 dollars, significantly under original spending
projections.
The completion of the human DNA sequence in the spring of 2003 coincided with the 50th
anniversary of Watson and 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."
Human Genome Project Completion Dates
Genetic Map 2- to 5-cM resolution map 1-cM resolution map (3,000 markers) September 1994
(600 – 1,500 markers)
DNA Sequence 95% of gene-containing part 99% of gene-containing part of April 2003
of human sequence finished human sequence finished to 99.99%
to 99.99% accuracy accuracy
Capacity and Cost of Sequence 500 Mb/year at < Sequence >1,400 November 2002
Finished Sequence $0.25 per finished base Mb/year at <$0.09 per finished base
Human Sequence 100,000 mapped human 3.7 million mapped human SNPs February 2003
Variation SNPs
Gene Identification Full-length human cDNAs 15,000 full-length human cDNAs March 2003
Model Organisms Complete genome sequences Finished genome sequences of April 2003
of E. coli, S. cerevisiae, C. elegans,
E. coli, S. cerevisiae, D. melanogaster, plus whole-genome
C. elegans, D. melanogaster drafts of several others, including C.
briggsae, D. pseudoobscura, mouse
and rat
Genome Donors
In the IHGSC international public-sector Human Genome Project (HGP), researchers collected
blood (female) or sperm (male) samples from a large number of donors. Only a few of many
collected samples were processed as DNA resources. Thus the donor identities were protected so
neither donors nor scientists could know whose DNA was sequenced. DNA clones from many
different libraries were used in the overall project, with most of those libraries being created by Dr.
Pieter J. de Jong. It has been informally reported, and is well known in the genomics community,
that much of the DNA for the public HGP came from a single anonymous male donor from Buffalo,
New York (code name RP11).
HGP scientists used white blood cells from the blood of two male and two female donors (randomly
selected from 20 of each) -- each donor yielding a separate DNA library. One of these libraries
(RP11) was used considerably more than others, due to quality considerations. One minor technical
issue is that male samples contain only half as much DNA from the X and Y chromosomes as from
the other 22 chromosomes (the autosomes); this happens because each male cell contains only one
X and one Y chromosome, not two like other chromosomes (autosomes)
Although the main sequencing phase of the HGP has been completed, studies of DNA variation
continue in the International HapMap Project, whose goal is to identify patterns of single nucleotide
polymorphism (SNP) groups (called haplotypes, or “haps”). The DNA samples for the HapMap
came from a total of 270 individuals: Yoruba people in Ibadan, Nigeria; Japanese people in Tokyo;
Han Chinese in Beijing; and the French Centre d’Etude du Polymorphisms Humain (CEPH)
resource, which consisted of residents of the United States having ancestry from Western and
Northern Europe.
In the Celera Genomics private-sector project, DNA from five different individuals were used for
sequencing. The lead scientist of Celera Genomics at that time, Craig Venter, later acknowledged
(in a public letter to the journal Science) that his DNA was one of 21 samples in the pool, five of
which were selected for use.
On September 4th, 2007, a team led by Craig Venter published his complete DNA sequence,
unveiling the six-billion-nucleotide genome of a single individual for the first time.