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General mutation databases: analysis and review
  1. Richard A George (r.george{at}victorchang.edu.au)
  1. Victor Chang Cardiac Research Institute, Australia
    1. Timothy D Smith (timothydsmith{at}gmail.com)
    1. Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy VIC 3065, Australia
      1. Steve Callaghan
      1. Deceased. Victorian Bioinformatics Institute, Monash University, Melbourne VIC 3800, Australia
        1. Lauren Hardman
        1. Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy VIC 3065, Australia
          1. Chrysoulla Pierides
          1. Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy VIC 3065, Australia
            1. Ourania Horaitis
            1. Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy VIC 3065, Australia
              1. Merridee A Wouters
              1. Structural and Computational Biology Program, Victor Chang Cardiac Research Institute, 384 Victoria, Australia
                1. Richard GH Cotton
                1. Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Fitzroy VIC 3065, Australia

                  Abstract

                  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 (LSDBs), 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.

                  • General Mutation Databases
                  • HGMD
                  • LSDB
                  • Mutations
                  • OMIM

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