Deakin University
Browse

General mutation databases : analysis and review

Download (247.1 kB)
journal contribution
posted on 2008-02-01, 00:00 authored by R George, T Smith, S Callaghan, L Hardman, C Pierides, O Horiatis, Merridee Wouters, R Cotton
Databases of mutations causing Mendelian disease play a crucial role in research, diagnostic and genetic health care and can play a role in life and death decisions. These databases are thus heavily used, but only gene or locus specific databases have been previously reviewed for completeness, accuracy, currency and utility. We have performed a review of the various general mutation databases that derive their data from the published literature and locus specific databases. Only two—the Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM)—had useful numbers of mutations. Comparison of a number of characteristics of these databases indicated substantial inconsistencies between the two databases that included absent genes and missing mutations. This situation strengthens the case for gene specific curation of mutations and the need for an overall plan for collection, curation, storage and release of mutation data.

History

Journal

Journal of medical genetics

Volume

45

Pagination

65 - 70

Location

London, England

Open access

  • Yes

ISSN

0022-2593

Language

eng

Notes

Reproduced with the kind permission of the copyright owner.

Publication classification

C1.1 Refereed article in a scholarly journal

Copyright notice

2008, BMJ Publishing Group

Usage metrics

    Research Publications

    Categories

    No categories selected

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC