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Human gene mutation database-a biomedical information and research resource.

M Krawczak1, E V Ball, I Fenton

  • 1Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, UK. krawczak@cardiff.ac.uk

Human Mutation
|December 29, 1999
PubMed
Summary

The Human Gene Mutation Database (HGMD) is the primary resource for pathological genetic variants, cataloging over 18,000 mutations. New online submission and publication methods are needed to address the increasing reluctance of journals to publish mutation reports.

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Area of Science:

  • Human Genetics
  • Bioinformatics
  • Medical Genomics

Background:

  • Centralized databases for pathological genetic variants are a recent initiative, despite decades of characterizing disease-causing DNA mutations.
  • The Human Gene Mutation Database (HGMD) is currently the most comprehensive public resource for human inherited disease gene lesions.

Purpose of the Study:

  • To highlight the importance and current status of the Human Gene Mutation Database (HGMD).
  • To address the need for improved electronic data submission and publication facilities for genetic mutation reports.
  • To outline HGMD's new initiatives for online data management and publication.

Main Methods:

  • Meta-analysis of collated mutation data from HGMD.
  • Questionnaire survey of editors from 20 key human genetics journals regarding publication trends.

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  • Development of online submission and publication capabilities through collaboration.

    • Main Results:

    • As of July 1999, HGMD contained over 18,000 mutations across approximately 900 human genes, predominantly single basepair substitutions.
    • Human genetics journals show increasing reluctance to publish individual mutation reports.
    • The World Wide Web (WWW) is identified as an ideal platform for centralized data management and electronic publication.

    Conclusions:

    • HGMD serves as a vital information resource for clinicians, genetic counselors, and researchers.
    • Electronic submission and publication are urgently required to facilitate the dissemination of genetic mutation data.
    • HGMD's collaboration with Springer-Verlag and links with locus-specific databases aim to enhance data accessibility and management.