MDI Special Article

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Use of molecular variation in the NCBI dbSNP database†

  1. Stephen T. Sherry*,
  2. Minghong Ward,
  3. Karl Sirotkin

Article first published online: 27 DEC 1999

DOI: 10.1002/(SICI)1098-1004(200001)15:1<68::AID-HUMU14>3.0.CO;2-6

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 68–75, January 2000

Additional Information

How to Cite

Sherry, S. T., Ward, M. and Sirotkin, K. (2000), Use of molecular variation in the NCBI dbSNP database. Human Mutation, 15: 68–75. doi: 10.1002/(SICI)1098-1004(200001)15:1<68::AID-HUMU14>3.0.CO;2-6

Author Information

  1. National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland

*NCBI, Room 8N805, Bldg. 38A, Bethesda, MD 20894

  1. †

    This article is a US Government work and, as such, is in the public domain in the United States of America.

Publication History

  1. Issue published online: 27 DEC 1999
  2. Article first published online: 27 DEC 1999
  3. Manuscript Accepted: 7 OCT 1999
  4. Manuscript Received: 3 AUG 1999

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Keywords:

  • MDI;
  • mutation database;
  • variation;
  • SNP;
  • NCBI

Abstract

While high quality information regarding variation in genes is currently available in locus-specific or specialized mutation databases, the need remains for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping, and evolutionary biology. In response to this need, the National Center for Biotechnology Information (NCBI) has established the dbSNP database http://ncbi.nlm.nih.gov/SNP/ to serve as a generalized, central variation database. Submissions to dbSNP will be integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink, and the Human Genome Project data, and the complete contents of dbSNP are available to the public via anonymous FTP. Hum Mutat 15:68–75, 2000. Published 2000 Wiley-Liss, Inc.

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