DOE To know ourselves

DOE To know ourselves - OURSELVES y THE U.S. DEPARTMENT A N...

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THE U.S. DEPARTMENT OF ENERGY AND THE HUMAN GENOME PROJECT JULY 1996 T O K NOW O URSELVES T O K O
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THE U.S. DEPARTMENT OF ENERGY AND THE HUMAN GENOME PROJECT JULY 1996 T O K NOW O URSELVES T O K O
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FOREWORD . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 THE GENOME PROJECT—WHY THE DOE? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 A bold but logical step INTRODUCING THE HUMAN GENOME . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 The recipe for life Some definitions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 A plan of action . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8 EXPLORING THE GENOMIC LANDSCAPE . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10 Mapping the terrain Two giant steps: Chromosomes 16 and 19 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 Getting down to details: Sequencing the genome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 Shotguns and transposons . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 How good is good enough? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 26 Sidebar: Tools of the Trade . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 Sidebar: The Mighty Mouse . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24 BEYOND BIOLOGY . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27 Instrumentation and informatics Smaller is better—And other developments . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27 Dealing with the data . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 30 ETHICAL, LEGAL, AND SOCIAL IMPLICATIONS . . . . . . . . . . . . . . . . . . . . . . . . . . . 32 An essential dimension of genome research Contents
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2 T THE END OF THE ROAD in Little Cottonwood Canyon, near Salt Lake City, Alta is a place of near-mythic renown among skiers. In time it may well assume similar status among molecular geneticists. In December 1984, a conference there, co-sponsored by the U.S. Department of Energy, pondered a single question: Does modern DNA research offer a way of detect- ing tiny genetic mutations—and, in particu- lar, of observing any increase in the mutation rate among the survivors of the Hiroshima and Nagasaki bombings and their descen- dants? In short the answer was, Not yet. But in an atmosphere of rare intellectual fer- tility, the seeds were sown for a project that would make such detection possible in the future—the Human Genome Project. In the months that followed, much deliberation and debate ensued. But in 1986, the DOE took a bold and unilateral step by announcing its Human Genome Initiative, convinced that its mission would be well served by a comprehensive picture of the human genome. The immediate response was considerable skepticism—skepticism about the scientific community’s technologi- cal wherewithal for sequencing the genome at a reasonable cost and about the value of the result, even if it could be obtained eco- nomically. Things have changed. Today, a decade later, a worldwide effort is under way to develop and apply the technologies needed to completely map and sequence the human genome, as well as the genomes of several model organisms. Technological progress has been rapid, and it is now generally agreed that this international project will produce the complete sequence of the human genome by the year 2005. And what is more important, the value of the project also appears beyond doubt. Genome research is revolutionizing biology and biotechnology, and providing a vital thrust to the increasingly broad scope of the biological sciences. The impact that will be felt in medicine and health care alone, once we identify all human genes, is inestimable.
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DOE To know ourselves - OURSELVES y THE U.S. DEPARTMENT A N...

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