Post on 10-May-2015
description
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
Databasequalitycontrol
Contents - scope - goals
Technical implementation - interface
Reference sequences
Database managementsystem
Variation description - nomenclature
Use of standards - ontologies
Pathogenicity definitionELSI - consent
DisclaimerLiability
Curation andcurators
Data distribution
Cross referencingLinking
Clinical data - extent - quality
Coverage of data
Data collection - literature - labs
Updating
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?