Human variome project quality assessment criteria for variation databases - Mauno Vihinen

Human Variome Project quality assessment criteria for variation databasesMauno Vihinen on behalf of the Working Group Protein Structure and Bioinformatics GroupDepartment of Experimental Medical ScienceLund University, Sweden

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

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

Components of quality

Two case studies- BTKbase- ClinVar

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 evaluationFor many others more detailed grading need to be establishedDesign a scheme to measure overall database quality

2) Beta testing with some real databasesRefining the quality calculation scheme

3) Database quality evaluationRequires independent group without any conflict of interestFeeback for curators and information for users (electronic seal)

4) Refinement of quality criteria

5) Evaluation of databases every few yearsVoluntary participation

Thanks!

John HancockDonna MaglottMelissa LandrumGerard SchaafsmaPeter Taschner

http://www.humanvariomeproject.org/finish/19/255.htmlVihinen et al. Hum Mutat (2016)

http://structure.bmc.lu.semauno.vihinen@med.lu.se