Announcements on the First Analysis of Genome Sequence
February 12, 2001
International Human Genome Sequencing Consortium Publishes Sequence and Analysis of the Human Genome
Washington, D.C., February 12, 2001
The Human Genome Project international consortium today announced the publication of a draft sequence and initial analysis of the human genome-the genetic blueprint for a human being. The paper appears in the Feb. 15 issue of the journal Nature.
The draft sequence, which covers more than 90 percent of the human genome, represents the exact order of DNA's four chemical bases-commonly abbreviated as A, T, C, and G-along the human chromosomes. This DNA text influences everything from eye color and height, to aging and disease.
The consortium's initial analysis of this text represents scientists' first global view of the human genomic landscape, with its extraordinary trove of information about human development, physiology, medicine, and evolution.
The results reported in this week's Nature represent major progress for the
human genome consortium. On June 26, the consortium announced that it had collected
roughly 90 percent of the letters of the text for the "Book of Life."
The consortium's new achievement represents a further compilation of these letters
into the first draft of a readable text.
There are small gaps still remaining to be filled in this text, but scientists are already getting a good sense of what the genome landscape looks like and the surprising stories it has to tell. Below are highlights.
The sequence information from the consortium has been immediately and freely
released to the world, with no restrictions on its use or redistribution. The
information is scanned daily by scientists in academia and industry, as well
as by commercial database companies, providing key information services to biotechnologists.
Already, many tens of thousands of genes have been identified from the genome
sequence, including more than 30 that play a direct role in human disease.
The scientific work reported here will serve as a basis for research and discovery
in the coming decades. Such research will have profound long-term consequences
for medicine. It will help elucidate the underlying molecular mechanisms of
disease. This in turn will allow researchers to design better drugs and therapies
for many illnesses.
But, as the authors of the Nature paper write, "the science is only part
of the challenge." "We must also involve society at large in the work
ahead. We must set realistic expectations that the most important benefits will
not be reaped overnight. Moreover, understanding and wisdom will be required
to ensure that they are implemented broadly and equitably."
"This remarkable achievement is a clear testament to the hard work of the hundreds of scientists in the sixteen genome centers that make up the Human Genome Project consortium," says Francis Collins, Director of the National Human Genome Research Institute. "These scientists have proved to the world that they can work together toward a common human good. For, with the human genome sequence in hand, we can begin to build the tools we need to conquer the host of illnesses that cause untold human suffering and premature death."
Production of genome sequence has skyrocketed over the past year, with more
than 90 percent of the sequence having been produced in the past 15 months alone.
Because of this increased capacity, the next phase is expected to move much
more rapidly than previously expected.
The HGP also plans to sequence the genomes of many other species, because comparing
genomes across species will provide researchers key tools for understanding
the essential elements that evolution has designated as important to survival.
This information will in turn translate into practical knowledge toward developing
better therapies in the future.
As the authors of the Nature paper point out, the draft genome sequence has
provided an initial look at the human gene content, but many ambiguities remain.
One of the HGP's priorities will be to refine the data to accurately reflect
every gene and every alternatively spliced form.
Several steps are needed to reach this ambitious goal, they report. Finishing
the human sequence will help, but in addition, scientists will need cross-species
comparisons to achieve this goal. A newly formed public-private consortium is
speeding this effort, producing freely accessible data that can be readily used
for cross-species comparison.
Finally, the sequence will serve as a foundation for a broad range of functional
genomic tools to help biologists to probe the function of the genes in a more
systematic manner. Development of such post-genomic tools will be one of the
major thrusts for biologists in the next decade, according to the scientists.
The HGP sequencing consortium used a biocluster provided by Compaq Computer
Corporation that provided one terabyte of secondary storage and assisted annotation
In a related announcement today, the biotech firm Celera Genomics announced that it had published its human genome sequence in the journal Science. The company used a combination of its own data and the consortium's data, available freely online, to assemble its sequence.
The Human Genome Sequencing Project aims to determine the sequence of the euchromatic
portion of human genome. The "euchromatic" portion excludes certain
regions consisting of long stretches of highly repetitive DNA that encode little
genetic information. Such regions are said to be "heterochromatic."
(Genomes contain long stretches of highly repetitive DNA. For example, the center
of chromosomes, called "centromeres," consists of heterochromatic
The international Human Genome Sequencing Consortium includes scientists at 20 institutions located in France, Germany, Japan, China, Great Britain and the United States. The five largest centers are located at: Baylor College of Medicine, Houston, Texas; Joint Genome Institute in Walnut Creek, CA; Sanger Centre near Cambridge, England; Washington University School of Medicine, St. Louis; and Whitehead Institute, Cambridge, Massachusetts.
The project is funded by grants from government agencies and public charities
in the various countries. These include the National Human Genome Research Institute
at the US National Institutes of Health, the Wellcome Trust in England, and
the US Department of Energy, as well as agencies in Japan, France, Germany,
The total cost for Phase One ("working draft") is approximately $300
million worldwide, with roughly half ($150 million) being funded by the US National
Institutes of Health.
The Human Genome Project is sometimes reported to have a cost of $3 billion. However, this figure refers to the total projected funding over a 15-year period (1990-2005) for a wide range of scientific activities related to genomics. These include studies of human diseases, experimental organisms (such as bacteria, yeast, worms, flies, and mice); development of new technologies for biological and medical research; computational methods to analyze genomes; and ethical, legal, and social issues related to genetics. Human genome sequencing represents only a small fraction of the overall 15-year budget.
The institutions that form the International Human Genome Sequencing Consortium include:
Papers are available online at http://www.nature.com/genomics/
Last modified: Wednesday, October 29, 2003
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