Report of the Committee on Mapping and Sequencing the Human Genome (1988) / Chapter Skim
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THE COLLECTION, ANALYSIS, AND DISTRIBUTION OF INFORMATION AND MATERIALS
THE COLLECTION, ANALYSIS, AND DISTRIBUTION OF INFORMATION AND MATERIALS
Pages 71-79
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From page 71... ...
Finally, the correlation of sequence data with the large amounts of information derived from human genetic linkage and disease studies is needed to derive the molecular basis for human phenotypes. As more DNA sequence information is obtained, our sophistication in interpretation should increase to the point at which a computer search will reveal a fascinating wealth of correlative data concerning almost any new DNA sequence obtained.
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From page 72... ...
PRESENT INFORMATION-HANDLING ORGANIZATIONS GenBank/EMBL The GenBank/EMBL data bank stores and distributes DNA sequence information. GenBank in the United States and the EMBL data bank in the Federal Republic of Germany share the task of recording, annotating, and distributing all the DNA sequence data published, regardless of the species of origin.
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From page 73... ...
at Yale University positions genes and DNA landmarks on chromosomes (publication of Howard Hughes Medical Institute, 1986)
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From page 74... ...
An extension of this type of system could serve as a logical means of keeping track of the overlapping DNA clones produced by a human genome project. Centre d'Etude du Polvmorphisme Humain The Centre d'Etude du Polymorphisme Humain (CEPH)
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From page 75... ...
If RFLP mapping is done under contract by commercial enterprises, some of which already have considerable experience in the field, the contract should stipulate that there be open access to all the probes that are developed. All Human Map Data Should Be Accessible from a Single Data Base In the major mapping data base associated with the human genome project, it will be necessary to keep track of the map positions, literature references, and material distribution sources for all identified landmarks in the human genome, including the DNA clones in the ordered clone collection.
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From page 76... ...
An additional possible routine role for the central facility includes converting large human DNA fragments possibly cloned as artificial chromosomes into more readily accessible bacterial virus or cosmid DNA clone collections. The facility could also take all the DNA clones that have been mapped elsewhere by a variety of different procedures and fingerprint them by a single method to provide a standard indexing procedure.
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From page 77... ...
All Data Must Be Entered Electronically or Magnetically From the outset, all sequence data must be entered into the DNA sequence bank by electronic or magnetic means. Moreover, the human genome project can circumvent many of the problems experienced by GenBank/EMBL by establishing a standard features format implemented at the point of data collection with the intention of expediting data entry.
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From page 78... ...
New ways of searching DNA sequences will need to be designed as we learn more about such subjects as the binding sites for gene regulatory proteins, the rules that regulate DNA splicing, RNA secondary structure, and the effects of specific amino acid replacements on protein folding. In the future, we can expect to learn a great deal more about genes from their sequences than is possible today.
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From page 79... ...
1986, Number 1, HGM8. New Haven, Conn.: Howard Hughes Medical Institute Human Gene Mapping Library.
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