Human variome project quality assessment criteria for variation databases - Mauno Vihinen
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Transcript of 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://[email protected]