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General mutation databases : analysis and review

George, R.A., Smith, T.D., Callaghan, S., Hardman, L., Pierides, C., Horiatis, O., Wouters, M.A. and Cotton, R.G. 2008, General mutation databases : analysis and review, Journal of medical genetics, vol. 45, no. 2, pp. 65-70.

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Title General mutation databases : analysis and review
Author(s) George, R.A.
Smith, T.D.
Callaghan, S.
Hardman, L.
Pierides, C.
Horiatis, O.
Wouters, M.A.
Cotton, R.G.
Journal name Journal of medical genetics
Volume number 45
Issue number 2
Start page 65
End page 70
Total pages 6
Publisher B M J Group
Place of publication London, England
Publication date 2008-02
ISSN 0022-2593
Keyword(s) databases
genetic
genome
human
humans
mutation
Summary 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.
Notes Reproduced with the kind permission of the copyright owner.
Language eng
Field of Research 060199 Biochemistry and Cell Biology not elsewhere classified
Socio Economic Objective 970105 Expanding Knowledge in the Environmental Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2008, BMJ Publishing Group
Persistent URL http://hdl.handle.net/10536/DRO/DU:30038976

Document type: Journal Article
Collections: School of Life and Environmental Sciences
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