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The need to redefine genomic data sharing – moving towards Open Science Genomics for Health and Environment Symposium 2014 By Fiona Nielsen

The need to redefine genomic data sharing - moving towards Open Science Oct 30, 2014

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This presentation was given at the symposium: Genomics for Health and Environment in Nijmegen on Oct 30, 2014 http://www.studiegids.science.ru.nl/2014/science/prospectus/biology_bachelor/course/34732/ The presentation introduces Open Science and Open Access Publishing and discusses these concepts in relation to (human) genomics. The discussion includes a presentation of the concept behind http://repositive.io, the social enterprise software platform which was spun out of the DNAdigest research activities. As a special edition to the students in the audience who are curious about their future scientific career, I included a couple of slides about my move from academic research to being a social entrepreneur. DNAdigest works to promote and enable easier and more efficient sharing of genomics data for research. We educate and engage the community about the hurdles and dilemmas for data sharing as faced from the perspective of stakeholders in academia, industry and patient communities. As part of our work we are working with our community and supporters to prototype new mechanisms and concepts for data sharing and data access. Please visit our website to learn more about our activities and events: http://DNAdigest.org Follow us on twitter: @DNAdigest

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  • 1. The need to redefine genomic datasharing moving towards Open ScienceGenomics for Health and Environment Symposium 2014 By Fiona Nielsen

2. Why is data sharing important?https://www.flickr.com/photos/ntnumedicine/8056093615 3. My motherCC-BY Fiona Nielsen 4. Mabelhttp://www.rameelinlarson.com/ 5. The long road to resultsRaw readsRead QCVariant callingAnalysis-readyreadsVariantAnnotation GenotypeAnalysis-readyvariantsRefinement Raw IndelsRaw SVsRaw SNPsMappingExternal DataCC-BY DNAdigest 6. Where is the data?~400khumangenomessequenced~5kavailable2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 7. The move towards Open Sciencehttps://www.flickr.com/photos/f4/12652885873 8. https://www.flickr.com/photos/medmss/7166591489 9. Modern Science Publications arebuilding blocks..standing onthe shouldersof giantshttp://en.wikipedia.org/wiki/Philosophi%C3%A6_Naturalis_Principia_Mathematica#mediaviewer/File:NewtonsPrincipia.jpg 10. Open Access publishingSee also: http://www.slideshare.net/jelena121/open-access-talkhttp://www.opensocietyfoundations.org/explainers/what-open-access 11. More than OA publishing Transparency Availability Accessibility Reusability Collaborationhttp://commons.wikimedia.org/wiki/File:Open_Science_-_Prinzipien.png 12. How to do Open Science?Old fashioned research: Work, finish, publishAim for reproducibility: Work, finish, publish, release data + methodsCollaborate and share for maximum impact: Work, release, finish, publishSee also:http://www.slideshare.net/christianheise/gfm-open-whaaaaaaat102013bmch-27451852 13. Publish everythingCC-BY Fiona Nielsen 14. Share early Share notes, results Use Figshare Blog about your work Preprints (arXiv, PeerJ) Acknowledge sourceshttps://www.flickr.com/photos/edmontonliveallyear/8433538606/ 15. Publish Open Access 16. But Open Science in genomics? Consider sensitive data Ensure consent is followed Publish metadataWhy? 17. Make your data discoverable Ensure consent is followed Publish metadata Make your data discoverableCC-BY Fiona Nielsen 18. What else can we do?Collaborative events + Communication + Research 19. We asked researchersResearchers spend months tofind and access genomic data,and often choose to not accessdata at allT. A. van Schaik et alThe need to redefine genomicdata sharing: a focus on dataaccessibility, Applied &Translational Genomics, 201410.1016/j.atg.2014.09.013 20. They told us their frustrationsSearchingFilteringRegisteringAccessing 21. How to make it a positive experience?CC-BY DNAdigest 22. Repositive.ioDiscover and filter Register metadataCollaborate Share securelyYou can sign up for beta testing: http://repositive.io 23. Repositive.iohttp://www.rameelinlarson.com/You can sign up for beta testing: http://repositive.io 24. Q&Ahttp://en.wikipedia.org/wiki/Karyotype#mediaviewer/File:Spectralkaryotype98-300.jpgVisit us at DNAdigest.org + sign up for our newsletter+ follow us on twitter @dnadigest 25. An odd career path?https://www.flickr.com/photos/kkoshy/4334413228/ 26. Where did that idea come from?https://www.flickr.com/photos/blackzack00/10205948476/ 27. Life as an entrepreneurhttps://www.flickr.com/photos/matthewpaulson/7185380311/ConsultingFundraisingMarketingBrandingPublic EngagementFinancial forecastsPlanningSoftware developmentScienceLong daysLittle financial returnBig satisfactionQuestions? I would love to hear from you ,drop me a line at [email protected] 28. Thanks!Visit us at DNAdigest.org + sign up for our newsletter+ follow us on twitter @dnadigest