Setting normative function:Accreditation of G/DSDBsMauno Vihinen (DL), Lund University, SwedenMireille Claustres, Universi...
Guidelines for LSDBsCelli, J., Dalgleish, R., Vihinen, M., Taschner, P. E. M. and den Dunnen,J. T. (2012) Curating gene se...
Establishment of LSDBsVihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locu...
Establishment of LSDBsVihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locu...
Establishment of LSDBsVihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locu...
CurationVihinen, M., den Dunnen, J., Dalgleish, R., Cotton, R. G. H. (2012) Guidelines for establishing locus specific dat...
G/DSDB quality control, preliminaries                     Updating Contents Curation and             Data collection    - ...
G/DSDB quality control, practicalitiesNo existing quality scheme- Quality criteria and measures- Independent assessors- Vo...
G/DSDB quality control, practicalities- Frequency- Rating system (how detailed)- HVP certification and electronic quality ...
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Setting Normative Function: Accreditation of G/DSDBs

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The accreditation of gene/disease specific databases has often been raised as an area of action for the Human Variome Project. This session of the 4th Biennial Meeting of the Human Variome Project Consortium discussed the idea further and attempted to generate some consensus on the matter from amongst the meeting delegates. The discussions centred on the form such accreditation should take both in the first instance and into the future.

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Setting Normative Function: Accreditation of G/DSDBs

  1. 1. Setting normative function:Accreditation of G/DSDBsMauno Vihinen (DL), Lund University, SwedenMireille Claustres, University Hospital of Montpellier, FranceRaymond Dalgleish, University of Leicester, UKFinlay Macrae, The Royal Melbourne Hospital, AustraliaPeter Taschner, Leiden University Medical Center, Holland
  2. 2. Guidelines for LSDBsCelli, 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 theReporting and Databasing of Genetic Variations"
  3. 3. Establishment of LSDBsVihinen, 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. 4. Establishment of LSDBsVihinen, 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. 5. Establishment of LSDBsVihinen, 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. 6. CurationVihinen, 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. 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. 8. G/DSDB quality control, practicalitiesNo existing quality scheme- Quality criteria and measures- Independent assessors- Voluntary participation- Self assessment, can be automated (to certain extent)- Additional quality controlsWhat is quality and how to measure it?
  9. 9. G/DSDB quality control, practicalities- Frequency- Rating system (how detailed)- HVP certification and electronic quality seal list of certified dbases at HVP web siteHow, when and by whom?- Funding!?Quality assessment of country nodesHow to proceed?

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