This document discusses quality assessment criteria for variation databases that are developed by the Human Variome Project working group. It outlines two key components of quality - the contents, update frequency, and quality of numerous available variation databases. It also describes work done by the working group to produce guidelines for defining variation database quality, which includes evaluating databases based on criteria and providing feedback and an electronic seal to indicate quality. The document concludes by outlining next steps, which include beta testing the quality evaluation scheme with real databases, performing independent evaluations of databases, and refining the quality criteria over time through voluntary participation.

1. Human Variome Project quality
assessment criteria for variation
databases
Mauno Vihinen on behalf of the Working Group
Protein Structure and Bioinformatics Group
Department of Experimental Medical Science
Lund University, Sweden

2. Numerous variation databases are available
Widely used for various purposes (research, diagnosis..)
Their contents, update frequency etc vary
So does the quality
How to define variation database quality?
Quality of databases

3. Variation database quality, working group
HVP Working Group for Variant Database Quality Assessment, 2014
Produced a guideline, accepted by HVP
Publication in the Human Mutation 25th anniversary issue

4. Components of quality
Two case studies
- BTKbase
- ClinVar

5. What next?
1) A working group is currently translating the criteria to items that can be
evaluated in practice
Some quality items have simple yes/no evaluation
For many others more detailed grading need to be established
Design a scheme to measure overall database quality
2) Beta testing with some real databases
Refining the quality calculation scheme
3) Database quality evaluation
Requires independent group without any conflict of interest
Feeback for curators and information for users (electronic seal)
4) Refinement of quality criteria
5) Evaluation of databases every few years
Voluntary participation

6. Thanks!
John Hancock
Donna Maglott
Melissa Landrum
Gerard Schaafsma
Peter Taschner
http://www.humanvariomeproject.org/finish/19/255.html
Vihinen et al. Hum Mutat (2016)
http://structure.bmc.lu.se
mauno.vihinen@med.lu.se