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Setting normative function:
Accreditation of G/DSDBs
Mauno Vihinen (DL), Lund University, Sweden
Mireille Claustres, University Hospital of Montpellier, France
Raymond Dalgleish, University of Leicester, UK
Finlay Macrae, The Royal Melbourne Hospital, Australia
Peter Taschner, Leiden University Medical Center, Holland
Guidelines for LSDBs
Celli, J., Dalgleish, R., Vihinen, M., Taschner, P. E. M. and den Dunnen,
J. T. (2012) Curating gene sequence variant databases (LSDBs). Hum.
Mutat. 33, 291-297.

Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012)
Guidelines for establishing locus specific databases. Hum. Mutat. 33,
298-305.

Human Mutation virtual issue "Recommendations and Standards for the
Reporting and Databasing of Genetic Variations"
Establishment of LSDBs




Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases.
Hum. Mutat. 33, 298-305. © 2011 Wiley Periodicals, Inc.
Establishment of LSDBs




Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases.
Hum. Mutat. 33, 298-305. © 2011 Wiley Periodicals, Inc.
Establishment of LSDBs




Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases.
Hum. Mutat. 33, 298-305. © 2011 Wiley Periodicals, Inc.
Curation




Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases.
Hum. Mutat. 33, 298-305. © 2011 Wiley Periodicals, Inc.
G/DSDB quality control, preliminaries
                     Updating Contents Curation and
             Data collection    - scope
                                          curators
               - literature     - goals
                                         Technical implementation
               - labs
                                            - interface
     Coverage of data
                                                Database management
       Clinical data        Database            system
         - extent            quality             Use of standards
          - quality                                 - ontologies
 Cross referencing           control             Reference sequences
 Linking
        Data distribution                     Variation description
                                                 - nomenclature
                Disclaimer ELSI
                                        Pathogenicity definition
                Liability     - consent
G/DSDB quality control, practicalities
No existing quality scheme


- Quality criteria and measures
- Independent assessors
- Voluntary participation
- Self assessment, can be automated (to certain extent)
- Additional quality controls


What is quality and how to measure it?
G/DSDB quality control, practicalities
- Frequency
- Rating system (how detailed)
- HVP certification and electronic quality seal
       list of certified dbases at HVP web site


How, when and by whom?
- Funding!?


Quality assessment of country nodes


How to proceed?

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Setting Normative Function: Accreditation of G/DSDBs

  • 1. Setting normative function: Accreditation of G/DSDBs Mauno Vihinen (DL), Lund University, Sweden Mireille Claustres, University Hospital of Montpellier, France Raymond Dalgleish, University of Leicester, UK Finlay Macrae, The Royal Melbourne Hospital, Australia Peter Taschner, Leiden University Medical Center, Holland
  • 2. Guidelines for LSDBs Celli, J., Dalgleish, R., Vihinen, M., Taschner, P. E. M. and den Dunnen, J. T. (2012) Curating gene sequence variant databases (LSDBs). Hum. Mutat. 33, 291-297. Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases. Hum. Mutat. 33, 298-305. Human Mutation virtual issue "Recommendations and Standards for the Reporting and Databasing of Genetic Variations"
  • 3. Establishment of LSDBs Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases. Hum. Mutat. 33, 298-305. © 2011 Wiley Periodicals, Inc.
  • 4. Establishment of LSDBs Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases. Hum. Mutat. 33, 298-305. © 2011 Wiley Periodicals, Inc.
  • 5. Establishment of LSDBs Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases. Hum. Mutat. 33, 298-305. © 2011 Wiley Periodicals, Inc.
  • 6. Curation Vihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific databases. Hum. Mutat. 33, 298-305. © 2011 Wiley Periodicals, Inc.
  • 7. G/DSDB quality control, preliminaries Updating Contents Curation and Data collection - scope curators - literature - goals Technical implementation - labs - interface Coverage of data Database management Clinical data Database system - extent quality Use of standards - quality - ontologies Cross referencing control Reference sequences Linking Data distribution Variation description - nomenclature Disclaimer ELSI Pathogenicity definition Liability - consent
  • 8. G/DSDB quality control, practicalities No existing quality scheme - Quality criteria and measures - Independent assessors - Voluntary participation - Self assessment, can be automated (to certain extent) - Additional quality controls What is quality and how to measure it?
  • 9. G/DSDB quality control, practicalities - Frequency - Rating system (how detailed) - HVP certification and electronic quality seal list of certified dbases at HVP web site How, when and by whom? - Funding!? Quality assessment of country nodes How to proceed?