New Sequencing Awards, New Timetable for "Working Draft" of the Human

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Betty K Mansfield

Mar 16, 1999, 3:00:00 AM3/16/99

> Human Genome Project Announces Successful Completion of Pilot Project,
> Launches large-scale Effort to Sequence the Human Genome with New Awards,
> Accelerated Timetable
> The international Human Genome Project today announced the successful
> completion of the pilot phase of sequencing the human genome and the launch
> of the full scale effort to sequence all 3 billion letters (referred to as
> bases) that make up the human DNA instruction book. Based on experience
> gained from the pilot projects, an international consortium now predicts they
> will produce at least 90 percent of the human genome sequence in a "working
> draft" form by the spring of 2000, considerably earlier than expected.
> "I am extremely pleased that the Human Genome Project has accelerated efforts
> to complete one of the most important scientific projects in human history -
> unlocking the secrets of the genetic code. The Project will forever change
> how we understand the human body and disease, leading to improved prevention,
> treatments, and cures for what are currently medical mysteries," said Vice
> President Al Gore. "Specifically, I am thrilled that we are moving into full
> scale sequencing and are on track to complete a working draft of the human
> genome a year and half ahead of schedule. I want to commend the scientists
> that have dedicated themselves to moving forward on this project that will
> improve health care for millions of Americans," Gore said.
> The international consortium currently includes three U.S. laboratories
> funded by the National Human Genome Research Institute (NHGRI) of the
> National Institutes of Health (NIH), the Joint Genome Institute of the U.S.
> Department of Energy (DOE), and the Sanger Centre supported in the United
> Kingdom by the Wellcome Trust.
> The initiation of the full scale sequencing effort is based on the success of
> pilot projects that began three years ago to test new technologies and
> strategies for sequencing the large and complex human genome. In the pilot
> phase, eight scientific teams supported by NHGRI, DOE and international
> collaborators completed the sequence of over 480 million bases, of which 260
> million (or close to 10 percent of the human genome) are in high-quality
> finished form. The finished sequence produced by the pilot projects met or
> exceeded the international accuracy standard of no more than 1 error in
> 10,000 bases. In fact, the most recent assessment showed that leading
> sequencers are ten times more accurate than that, producing fewer than 10
> errors for every million bases sequenced. Pilot project participants also
> drove down the cost of sequencing to an average of 20 - 30 cents per base
> today.
> To kick off the full scale sequencing phase, the NHGRI and the Wellcome Trust
> today announced awards to four sequencing groups. NHGRI is awarding new
> grants totaling $81.6 million to three U.S. academic sequencing groups at the
> Whitehead Institute in Cambridge, MA; Washington University School of
> Medicine in St. Louis, MO; and the Baylor College of Medicine in Houston, TX.
> The Wellcome Trust announced that they are adjusting their funding of the
> Sanger Centre to make available approximately US $77 million for human DNA
> sequencing over the next 12 months.
> "This joint initiative marks a major expansion of the collaborative spirit of
> the international sequencing effort, with the goal of completing the sequence
> of the 3 billion bases of human DNA as soon as possible," said Francis S.
> Collins, director of the NHGRI.
> The consortium's goal is to produce a working draft covering at least 90
> percent of human genome sequence within one year. The sequencing strategy
> involves determination of the sequence from mapped segments of DNA from known
> locations in the genome. These data are then assembled in overlapping
> stretches that reflect the accurate orientation of the DNA in the genome. In
> plans drawn up last fall, Genome Project leaders projected completing the
> working draft by December 2001. The new consortium goal advances this
> timetable by more than a year and a half. The working draft will then serve
> as the scaffold for the painstaking but critical work of finishing, which
> involves closing gaps and correcting errors, leading to completion of the
> permanent high-quality, human DNA sequence by 2003 at the latest.
> The five largest sequencing laboratories have joined together in a tightly
> knit collaboration with weekly meetings, shared materials, and shared
> protocols. The NHGRI funded laboratories will be responsible for producing
> approximately 60 percent of working draft sequence. DOE's Joint Genome
> Institute and the Sanger Centre will be responsible for producing
> approximately 10 percent and 33 percent respectively. "As one of the founders
> of the Human Genome Project, the Department of Energy is gratified to see the
> launch of the final stage of this project that promises such benefit to
> humanity," said Under Secretary of Energy Ernest Moniz.
> The NHGRI and its international partners are committed to releasing DNA
> sequence into public databases for free access within 24 hours. The rapid
> public availability of the sequence will be invaluable to researchers
> studying the molecular basis of human health and disease. Thus, the
> information will be available immediately to the vast number of corporate
> researchers engaged in drug development, as well as academic scientists
> answering critical questions through basic biomedical research. Michael
> Morgan, Chief Executive of the Wellcome Trust Genome Campus, said: "Through
> this major publicly funded effort we can ensure that sequence data remains in
> the public domain for access by all researchers for the development of future
> healthcare treatments. This is crucial for the real medical benefits to be
> realized efficiently."
> The sequencing effort is also designed so it can take advantage of any
> sequencing work done in the private sector. This may allow completion of the
> final sequence far sooner than 2003. "The Human Genome Project looks forward
> enthusiastically to cooperating with all parties that can contribute to more
> rapid public availability of the human genome sequence," said Collins.
> Besides sequencing human DNA, Genome Project researchers are developing new
> sequencing technologies and conducting studies of human genetic variation,
> genomic function, and genomic analysis of model organisms. Scientists can use
> these tools to help them "read" the information coded in the DNA sequence,
> which will help them understand human illnesses and, ultimately, to find
> dramatically new treatments and cures. In addition to these goals, the HGP
> will continue to vigorously support research on the ethical, legal, and
> social implications (ELSI) of genome analysis.
> The three new NHGRI awards were based on a peer review process that evaluated
> the largest of the pilot projects, those that had completed 15 million bases
> of high-quality, finished sequence by December 1998. NHGRI will review
> additional applications in March and plans to award additional funds for
> large-scale human DNA sequence production in May.
> For more information, contact:
> NHGRI, Sharon Durham, 301-402-0911
> Whitehead Institute, Eve Nichols or Seema Kumar, 617-258-5183
> Washington University School of Medicine in St. Louis, Linda Sage,
> 314-286-0119
> Baylor College of Medicine, B.J. Almond, 713-798-7971
> Department of Energy, Jeff Sherwood, 202-586-5806
> Wellcome Trust, Noorece Ahmed, 44 171 611-8540 (United Kingdom)
> Sanger Centre, Jane Rogers, 44 122 383-4244 (United Kingdom)
> Web location of this press release:

For more information on the DOE and NIH Human Genome Project Five Year Plan,

Betty K. Mansfield, Managing editor, Human Genome News
Oak Ridge National Laboratory Voice: 423/576-6669
1060 Commerce Park Fax: 423/574-9888
Oak Ridge, TN 37830
Sponsor: U.S. Department of Energy Human Genome Program

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