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Vol.9, No.3   July 1998

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Also available in pdf.

1997 Santa Fe Highlights

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Eyes on the Prize: Deliver the Sequence

Complete, Accurate Sequence Most Important, Patrinos Says

The message delivered by Ari Patrinos last November at the Sixth DOE Human Genome Program Contractor-Grantee meeting in Santa Fe was clearNew 5-Year Plan). More than 400 genome program grantees, managers, and guests attended the workshop in the city of the "holy faith", high above the southwestern desert.

Patrinos, associate director of the DOE Office of Biological and Environmental Research (OBER), explained the rationale for dramatically increasing support for large-scale sequencing at the expense of other projects in the genome program. It's simple, he said. "We need to take our human genome goals seriously, or public support may evaporate and bring potentially serious budgetary repercussions."

OBER's decisions, Patrinos continued, are aimed specifically toward DOE's pledge to complete at least human chromosomes 5, 16, and 19 (about 340 Mb or 10% of the genome) over the next 7 years. He then outlined the steps DOE is taking toward its daunting goal.

Sequencing Factory on Track
DOE made the first and most important change in its genome program in late 1996 by joining genome center sequencing work at Lawrence Livermore National Laboratory (LLNL), Lawrence Berkeley National Laboratory (LBNL), and Los Alamos National Laboratory into the Joint Genome Institute (JGI). This move is aimed at exploiting individual strengths, reducing redundancy, and creating the critical mass needed.

"The only way to do production sequencing on the required competitive scale is with a factory approach," Patrinos asserted. Work on JGI's new Production Sequencing Facility (PSF) began in January in Walnut Creek, California, about 35 minutes from LLNL and LBNL.

With PSF operations scheduled to begin in late fall 1998, Patrinos said he felt "very optimistic." He credited the hard work and strong support of principal scientists, senior management at the three laboratories, and DOE advisors, many of whom were at the meeting.

Sequence quality generated by JGI will conform to or exceed community standards (see Bermuda-Quality Sequence) and include full and immediate data release. JGI will be held to the highest standards of quality assurance and control and database sharing. Expectations are for strong academic collaborations with sequencing centers funded under the NIH National Human Genome Research Institute, Patrinos said.

Informatics and Technology Development
An effective program of technology and informatics development is essential to success in production sequencing, Patrinos continued. He also stressed the importance of coordinating increased informatics efforts not only within the program but also with NIH and the National Science Foundation. "This is critical," he said, "for dealing with the 3 billion bp of human DNA and for the post-project challenges that will confront us in understanding the biology of long strings of sequence, a new field called functional genomics." (See New Awards, and Data Surge.)

Preparing for the Future
Patrinos expressed his strong belief that DOE's Human Genome Program is important for the future of biology, science, and society and that it requires the participation of many disciplines to bring its promise to fruition. He pointed to the Biological and Environmental Research Program's 50-year tradition of supporting a diverse portfolio of research that drives science at disciplinary interfaces where most advances occur. "DOE has done its part with training physicists, engineers, and computer scientists to strengthen the program in ways that can help us meet genome project objectives and also generate other applications," Patrinos said.

Fifty Years of BER Progress
  • http://www.er.doe.gov/production/ober/ober_top.html
  • http://www.er.doe.gov/production/ober/ber50.html
  • A Vital Legacy --a booklet detailing the first 50 years of the DOE BER program is available free of charge by contacting Betty Mansfield (bkq@ornl.gov).

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The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v9n3).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.