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dbSNP: a database of single nucleotide polymorphisms.

E M Smigielski1, K Sirotkin, M Ward

  • 1National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA.

Nucleic Acids Research
|December 11, 1999
PubMed
Summary
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The National Center for Biotechnology Information created the dbSNP database to catalog genome variations for studies in genetics and evolution. This resource supports large-scale research by providing accessible single nucleotide polymorphism (SNP) data.

Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • Large-scale genome variation data is crucial for association studies, gene mapping, and evolutionary biology.
  • Existing resources lacked a comprehensive catalog for diverse genome variation data.
  • The need for a centralized, accessible database for single nucleotide polymorphisms (SNPs) was identified.

Purpose of the Study:

  • To establish a general catalog of genome variation.
  • To create the dbSNP (the SNP Variation Database).
  • To support large-scale genetic and evolutionary research.

Main Methods:

  • Establishment of the dbSNP database by the National Center for Biotechnology Information (NCBI).
  • Integration of submitted SNP data with existing NCBI resources like GenBank, PubMed, and LocusLink.

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  • Public accessibility of the database via a website and anonymous FTP.

    • Main Results:

    • A comprehensive database of genome variation, specifically single nucleotide polymorphisms (SNPs), has been established.
    • dbSNP integrates diverse genetic variation data, enhancing its utility for research.
    • The database is publicly available, facilitating widespread use in scientific research.

    Conclusions:

    • dbSNP provides a vital resource for researchers studying genome variation.
    • The database supports advancements in genetic association studies, gene mapping, and evolutionary biology.
    • Public access to SNP data accelerates discoveries in human genetics and related fields.