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Author (up) Spjuth, O.; Krestyaninova, M.; Hastings, J.; Shen, H.Y.; Heikkinen, J.; Waldenberger, M.; Langhammer, A.; Ladenvall, C.; Esko, T.; Persson, M.A.; Heggland, J.; Dietrich, J.; Ose, S.; Gieger, C.; Ried, J.S.; Peters, A.; Fortier, I.; de Geus, E.J.; Klovins, J.; Zaharenko, L.; Willemsen, G.; Hottenga, J.J.; Litton, J.E.; Karvanen, J.; Boomsma, D.I.; Groop, L.; Rung, J.; Palmgren, J.; Pedersen, N.L.; McCarthy, M.I.; van Duijn, C.M.; Hveem, K.; Metspalu, A.; Ripatti, S.; Prokopenko, I.; Harris, J.R. url  doi
  Title Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research Type Journal Article
  Year 2016 Publication Eur J Hum Genet Abbreviated Journal European journal of human genetics  
  Volume 24 Issue 4 Pages 521-528  
  Keywords HUNT3  
  Abstract A wealth of biospecimen samples are stored in modern globally distributed biobanks. Biomedical researchers worldwide need to be able to combine the available resources to improve the power of large-scale studies. A prerequisite for this effort is to be able to search and access phenotypic, clinical and other information about samples that are currently stored at biobanks in an integrated manner. However, privacy issues together with heterogeneous information systems and the lack of agreed-upon vocabularies have made specimen searching across multiple biobanks extremely challenging. We describe three case studies where we have linked samples and sample descriptions in order to facilitate global searching of available samples for research. The use cases include the ENGAGE (European Network for Genetic and Genomic Epidemiology) consortium comprising at least 39 cohorts, the SUMMIT (surrogate markers for micro- and macro-vascular hard endpoints for innovative diabetes tools) consortium and a pilot for data integration between a Swedish clinical health registry and a biobank. We used the Sample avAILability (SAIL) method for data linking: first, created harmonised variables and then annotated and made searchable information on the number of specimens available in individual biobanks for various phenotypic categories. By operating on this categorised availability data we sidestep many obstacles related to privacy that arise when handling real values and show that harmonised and annotated records about data availability across disparate biomedical archives provide a key methodological advance in pre-analysis exchange of information between biobanks, that is, during the project planning phase.  
  Address  
  Corporate Author Thesis  
  Publisher Place of Publication Department of Medical Epidemiology and Biostatistics, Swedish e-Science Research Centre, Karolinska Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN ISBN Medium  
  Area Expedition Conference  
  Notes Spjuth, OlaKrestyaninova, MariaHastings, JannaShen, Huei-YiHeikkinen, JaniWaldenberger, MelanieLanghammer, ArnulfLadenvall, ClaesEsko, TonuPersson, Mats-AkeHeggland, JonDietrich, JoernOse, SandraGieger, ChristianRied, Janina SPeters, AnnetteFortier, Isabelde Geus, Eco J CKlovins, JanisZaharenko, LindaWillemsen, GonnekeHottenga, Jouke-JanLitton, Jan-EricKarvanen, JuhaBoomsma, Dorret IGroop, LeifRung, JohanPalmgren, JuniPedersen, Nancy LMcCarthy, Mark Ivan Duijn, Cornelia MHveem, KristianMetspalu, AndresRipatti, SamuliProkopenko, IngaHarris, Jennifer RengResearch Support, Non-U.S. Gov'tEngland2015/08/27 06:00Eur J Hum Genet. 2016 Apr;24(4):521-8. doi: 10.1038/ejhg.2015.165. Epub 2015 Aug 26. Approved no  
  Call Number HUNT @ maria.stuifbergen @ Spjuth2016 Serial 1784  
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