human variome project quality assessment criteria for variation databases - mauno vihinen
TRANSCRIPT
![Page 1: Human variome project quality assessment criteria for variation databases - Mauno Vihinen](https://reader035.vdocuments.us/reader035/viewer/2022062523/58ed879c1a28ab35208b4649/html5/thumbnails/1.jpg)
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
![Page 2: Human variome project quality assessment criteria for variation databases - Mauno Vihinen](https://reader035.vdocuments.us/reader035/viewer/2022062523/58ed879c1a28ab35208b4649/html5/thumbnails/2.jpg)
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
![Page 3: Human variome project quality assessment criteria for variation databases - Mauno Vihinen](https://reader035.vdocuments.us/reader035/viewer/2022062523/58ed879c1a28ab35208b4649/html5/thumbnails/3.jpg)
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
![Page 4: Human variome project quality assessment criteria for variation databases - Mauno Vihinen](https://reader035.vdocuments.us/reader035/viewer/2022062523/58ed879c1a28ab35208b4649/html5/thumbnails/4.jpg)
Components of quality
Two case studies- BTKbase- ClinVar
![Page 5: Human variome project quality assessment criteria for variation databases - Mauno Vihinen](https://reader035.vdocuments.us/reader035/viewer/2022062523/58ed879c1a28ab35208b4649/html5/thumbnails/5.jpg)
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
![Page 6: Human variome project quality assessment criteria for variation databases - Mauno Vihinen](https://reader035.vdocuments.us/reader035/viewer/2022062523/58ed879c1a28ab35208b4649/html5/thumbnails/6.jpg)
Thanks!
John HancockDonna MaglottMelissa LandrumGerard SchaafsmaPeter Taschner
http://www.humanvariomeproject.org/finish/19/255.htmlVihinen et al. Hum Mutat (2016)
http://[email protected]