MDI Special Article

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Central mutation databases—A review

  1. Christopher J. Porter1,
  2. C. Conover Talbot, Jr.1,
  3. A. Jamie Cuticchia2,*

Article first published online: 27 DEC 1999

DOI: 10.1002/(SICI)1098-1004(200001)15:1<36::AID-HUMU9>3.0.CO;2-D

Issue

Human Mutation

Human Mutation

Special Issue: The HUGO Mutation Database Initiative: Issues, Databases, and Perspectives for the New Millennium

Volume 15, Issue 1, pages 36–44, January 2000

Additional Information

How to Cite

Porter, C. J., Talbot, Jr., C. C. and Cuticchia, A. J. (2000), Central mutation databases—A review. Human Mutation, 15: 36–44. doi: 10.1002/(SICI)1098-1004(200001)15:1<36::AID-HUMU9>3.0.CO;2-D

Author Information

  1. 1

    Johns Hopkins University, Baltimore, Maryland

  2. 2

    Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada

*Head, Bioinformatics, Sr. Bioinformatics Scientist, Research Institute, Hospital for Sick Children, 555 University Ave., Toronto, ON, Canada M5G 1X8

Publication History

  1. Issue published online: 27 DEC 1999
  2. Article first published online: 27 DEC 1999
  3. Manuscript Accepted: 11 OCT 1999
  4. Manuscript Received: 12 AUG 1999

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Keywords:

  • MDI;
  • mutation database;
  • central databases;
  • variation

Abstract

The Internet has been a key component in the coordination of the diverse group of scientists involved in the Human Genome Project. Nowhere has this contribution been more critical than in the maintenance and exchange of information about genetic variation and mutation. Whereas the majority of DNA sequence is generated and stored by a relatively few sites, a far greater number of researchers investigate the variations in that sequence from sites scattered worldwide. It falls to central databases to utilize the Internet to assemble data from these sites and make them available to the greater human genomic community. Hum Mutat 15:36–44, 2000. © 2000 Wiley-Liss, Inc.

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