MDI Special Article

You have free access to this content

UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases

  1. Christophe Béroud1,*,
  2. Gwenaëlle Collod-Béroud1,
  3. Catherine Boileau1,2,
  4. Thierry Soussi3,
  5. Claudine Junien1,2

Article first published online: 27 DEC 1999

DOI: 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4

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 86–94, January 2000

Additional Information

How to Cite

Béroud, C., Collod-Béroud, G., Boileau, C., Soussi, T. and Junien, C. (2000), UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases. Human Mutation, 15: 86–94. doi: 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4

Author Information

  1. 1

    INSERM U383, Hôpital Necker Enfants Malades, Clinique Maurice Lamy, Paris, France

  2. 2

    Laboratoire de Biochimie, d'Hormonologie et de Génétique Moléculaire, Hôpital Ambroise Paré, Boulogne, France

  3. 3

    Institut Curie, UMR 218 CNRS, Pavillon Trouillet Rossignol, Paris, France

*INSERM U383, Hôpital Necker-Enfants Malades, Pavillon Maurice Lamy, 149-161 rue de Sèvres, 75743 Paris Cedex 15, France

Publication History

  1. Issue published online: 27 DEC 1999
  2. Article first published online: 27 DEC 1999
  3. Manuscript Accepted: 8 OCT 1999
  4. Manuscript Received: 27 JUL 1999

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (234K)

Keywords:

  • MDI;
  • UMD;
  • mutation database;
  • software;
  • data analysis

Abstract

The human genome is thought to contain about 80,000 genes and presently only 3,000 are known to be implicated in genetic diseases. In the near future, the entire sequence of the human genome will be available and the development of new methods for point mutation detection will lead to a huge increase in the identification of genes and their mutations associated with genetic diseases as well as cancers, which is growing in frequency in industrial states. The collection of these mutations will be critical for researchers and clinicians to establish genotype/phenotype correlations. Other fields such as molecular epidemiology will also be developed using these new data. Consequently, the future lies not in simple repositories of locus-specific mutations but in dynamic databases linked to various computerized tools for their analysis and that can be directly queried on-line. To meet this goal, we devised a generic software called UMD (Universal Mutation Database). It was developed as a generic software to create locus-specific databases (LSDBs) with the 4th Dimension® package from ACI. This software includes an optimized structure to assist and secure data entry and to allow the input of various clinical data. Thanks to the flexible structure of the UMD software, it has been successfully adapted to nine genes either involved in cancer (APC, P53, RB1, MEN1, SUR1, VHL, and WT1) or in genetic diseases (FBN1 and LDLR). Four new LSDBs are under construction (VLCAD, MCAD, KIR6, and COL4A5). Finally, the data can be transferred to core databases. Hum Mutat 15:86–94, 2000. © 2000 Wiley-Liss, Inc.

Get PDF (234K)