Report of the Committee on Mapping and Sequencing the Human Genome (1988) / Chapter Skim
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EXECUTIVE SUMMARY
EXECUTIVE SUMMARY
Pages 1-10
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From page 1... ...
In studying these issues, the committee reached the following conclusions: • Acquiring a map, a sequence, and an increased understanding of the human genome merits a special effort that should be organized and funded specifically for this purpose. Such a special effort in the next two decades will greatly enhance progress in human biology and medicine.
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From page 2... ...
• The human genome project should differ from present ongoing research inasmuch as the component subprojects should have the potential to improve by 5- to 10-fold increments the scale or efficiency of mapping, sequencing, analyzing, or interpreting the biological significance of the information in the human genome. • Progress toward all the above goals will require the establishment of well-funded centralized facilities, including a stock center for the cloned DNA fragments generated in the mapping and sequencing effort and a data center for the computer-based collection and distribution of large amounts of DNA sequence information.
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From page 3... ...
Genetic linkage maps are made mainly by studying families and measuring the frequency with which two different traits are inherited together, or linked. Physical maps are derived mainly from chemical measurements made on the DNA molecules that form the human genome; these maps can be of several different types and include restriction maps and ordered DNA clone collections.
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From page 4... ...
Nucleotides, four different kinds represented by the letters A, C, G, and T, are the smallest genetic unit and are paired in specific combinations within the double helix of DMA.
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From page 5... ...
As a result, a project of this type will quickly pay for itself by saving the enormous aggregate costs involved when each laboratory must find its own DNA clones. Several recent breakthroughs in mapping methods make obtaining the type of detailed data needed in human genome maps a realistic goal.
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From page 6... ...
It is useful to think in terms of trying to achieve 5- to 10-fold incremental improvements in the scale and speed of DNA sequencing. To derive the major benefits from the human genome sequence, it will be necessary to have an extensive data base of DNA sequences from the mouse (whose genome is the same size as that of the human)
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From page 7... ...
This facility would store the appropriate DNA clones, index them according to some agreed-on plan, and then redistribute them to all laboratories that request them. The facility might also be involved in the routine conversion of large human DNA fragments, cloned as artificial chromosomes, into more readily accessible bacterial virus or cosmid DNA clone collections.
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From page 8... ...
Since individual investigators working in small groups have been the source of nearly all the major methodological breakthroughs that have driven the modern revolution in biology, the proposed organization ensures that our extraordinarily successful pattern of doing biology will be preserved. In multidisciplinary centers, 3 to 10 research groups, each with an outstanding independent scientific director and a different but related focus, are envisioned as sharing equipment and personnel in core facilities and collaborating to accomplish a larger goal than any single group could readily achieve on its own.
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From page 9... ...
It would thus leave the crucial task of functional studies to traditionally supported biological research. For the human genome project to be of maximum value, the committee believes that it needs to be well organized and coordinated.
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From page 10... ...
This project would greatly increase our understanding of human biology and allow rapid progress to occur in the diagnosis and ultimate control of many human diseases. As visualized, it would also lead to the development of a wide range of new DNA technologies and produce the maps and sequences of the genomes of a number of experimentally accessible organisms, providing central information that will be important for increasing our understanding of all biology.
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