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Human Gene Mutation Database (HGMD): 2003 update.

Peter D Stenson1, Edward V Ball, Matthew Mort

  • 1Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.

Human Mutation
|May 20, 2003
PubMed
Summary
This summary is machine-generated.

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The Human Gene Mutation Database (HGMD) is a vital resource cataloging germ-line mutations linked to inherited diseases. It provides comprehensive data on various mutation types across numerous genes, continuously updated and freely accessible online.

Area of Science:

  • Genetics
  • Bioinformatics
  • Medical Genetics

Background:

  • The Human Gene Mutation Database (HGMD) is a primary repository for germ-line mutations associated with human inherited diseases.
  • It systematically collects and curates data on a wide spectrum of genetic alterations.

Purpose of the Study:

  • To provide a comprehensive and continuously updated collection of human gene mutation data.
  • To facilitate research into the genetic basis of inherited diseases by offering a centralized data resource.

Main Methods:

  • Cataloging diverse mutation types including single base-pair substitutions, deletions, insertions, indels, and triplet repeat expansions.
  • Ensuring unique entries for each mutation to distinguish between recurrent and identical-by-descent lesions.
  • Integrating cDNA reference sequences, splice junction sequences, and polymorphism data.

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Main Results:

  • As of March 2003, HGMD contained over 39,415 distinct mutations across 1,516 nuclear genes.
  • The database experiences rapid growth, with over 5,000 new entries annually.
  • Over 87% of listed genes include associated cDNA reference sequences.

Conclusions:

  • HGMD serves as an indispensable, freely accessible resource for researchers studying human genetic disorders.
  • The database's ongoing expansion and integration of related data enhance its utility for genetic research and clinical applications.