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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. Attached Files Name Description MIMEType Size Downloads wouters-generalmutation-2008.pdf Published version application/pdf 247.10KB 61 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 Open Access Collection Related Links Link Description Connect to published version (restricted access) Go to link with your DU access privileges     Unless expressly stated otherwise, the copyright for items in DRO is owned by the author, with all rights reserved. Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au. Versions Version Filter Type Mon, 24 Oct 2011, 08:08:20 EST Fri, 28 Oct 2011, 10:53:49 EST Fri, 28 Oct 2011, 10:58:04 EST Fri, 28 Oct 2011, 11:00:04 EST Wed, 02 Nov 2011, 07:51:17 EST Thu, 03 Nov 2011, 08:46:19 EST Thu, 01 Mar 2012, 10:19:48 EST Thu, 09 Aug 2012, 11:57:29 EST Thu, 09 Aug 2012, 11:59:19 EST Filtered Full Citation counts:   Cited 15 times in TR Web of Science Cited 16 times in Scopus Search Google Scholar Access Statistics: 61 Abstract Views, 61 File Downloads  -  Detailed Statistics Created: Mon, 24 Oct 2011, 08:08:20 EST

Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.