Mapping and Sequencing the Human Genome (1988) / Chapter Skim
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6. The Collection, Analysis, and Distribution of Information and Materials
6. The Collection, Analysis, and Distribution of Information and Materials
Pages 75-85
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From page 75... ...
To extract the maximum information from the human sequence, it will also be necessary to search for amino acid homologies with the entire set of all known proteins, regardless of their origin. In addition, extensive searches for regions of similarity of short nucleotide sequences between human genes and their mouse counterparts will be necessary to detect regulatory DNA sequences and other conserved sequences for which functions can then be sought.
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From page 76... ...
Such clones will also provide a source of DNA to be sequenced as well~as many DNA probes for researchers seeking human disease genes. Two different types of centralized facilities will be needed: centers to collect and distribute materials such as DNA clones and human cell lines and centers to collect and distribute mapping and sequencing data.
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From page 77... ...
PRESENT INFORMATION-HANDLING ORGANIZATIONS GenBank/EMBL The GenBank/EMBE data bank stores and distributes DNA sequence information. GenBank in the United States and the EMBE 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 78... ...
Human Gene Mapping Library The Human Gene Mapping Library (HGML) at Yale University positions genes and DNA landmarks on chromosomes (publication of Howard Hughes Medical Institute, 19861.
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From page 79... ...
coordinates an international RAP mapping effort using data from standard families (Marx, 1985; Dausset,- 19861. CEPH, created by Jean Dausset in Paris, differs from MIM and HGML in being a collaborative research effort that both generates and stores human mapping data.
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From page 80... ...
If REAP mapping is done uncler 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,
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From page 81... ...
At one extreme, one could imagine that such a facility would merely store DNA clones received from all participating laboratories (as DNA, as bacterial viruses, or as yeast cells carrying artificial chromosomes) , index them according to some reasonable plan, and then redistribute them for a standard fee in response to specific requests from scientists.
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From page 82... ...
An additional possible routine role for the central facility includes converting large human DNA fragments cloned as artificial chromosomes into more readily accessible bacterial virus or cosmic 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 83... ...
Exactly how the data are to be analyzed might be tied to the number of centers or laboratories collecting the data, the kinds of staffing provided at a central facility, and the scope of the immediate data dispersal, i.e., whether it is national or international. An Example of an lnifial Sequence Analysis The strategy of data analysis will have to evolve as data accumulate, but the primary question will always be whether a particular sequence
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From page 84... ...
The Need for Research 011 Data Analysis We are only at the beginning of learning how to use computers to interpret DNA sequence information. 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 RNA splicing, RNA secondary structure, and the effects of specific amino acid replacements on protein folding.
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From page 85... ...
1986, Number 1, HGM8. Howard Hughes Medical Institute Human Gene Mapping Library, New Haven, Conn.
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