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General mutation databases: analysis and review.

R A George1, T D Smith, S Callaghan

  • 1Structural and Computational Biology Program, Victor Chang Cardiac Research Institute, 384 Victoria Street, Darlinghurst, NSW 2010, Australia. r.george@victorchang.edu.au

Journal of Medical Genetics
|September 26, 2007
PubMed
Summary
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General mutation databases like HGMD and OMIM are crucial for Mendelian disease research but contain inconsistencies. This highlights the need for standardized gene-specific mutation data curation.

Area of Science:

  • Genetics
  • Bioinformatics
  • Medical Genetics

Background:

  • Mutation databases are vital for Mendelian disease research, diagnostics, and genetic healthcare.
  • Previous reviews focused on gene-specific databases, leaving general mutation databases unevaluated for quality.

Purpose of the Study:

  • To review and compare general mutation databases for completeness, accuracy, currency, and utility.
  • To identify inconsistencies between major mutation databases.

Main Methods:

  • Literature review of general mutation databases.
  • Comparative analysis of the Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM).

Main Results:

  • Only HGMD and OMIM contained sufficient mutation data for analysis.

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  • Substantial inconsistencies were found between HGMD and OMIM, including absent genes and missing mutations.

    • Conclusions:

    • The identified inconsistencies underscore the importance of gene-specific mutation curation.
    • A comprehensive plan for mutation data collection, curation, storage, and release is necessary.