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?