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Spjuth, O.* ; Krestyaninova, M.* ; Hastings, J.* ; Shen, H.Y.* ; Heikkinen, J.* ; Waldenberger, M. ; Langhammer, A.* ; Ladenvall, C.* ; Esko, T.* ; Persson, M.* ; 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.*

Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research.

Eur. J. Hum. Genet. 24, 521-528 (2015)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Datashaper Approach; Ontology; Association; Information; Quality; Disease; Sample; System; Health; Tool
Sprache englisch
Veröffentlichungsjahr 2015
HGF-Berichtsjahr 2015
ISSN (print) / ISBN 1018-4813
e-ISSN 1476-5438
Zeitschrift European Journal of Human Genetics
Quellenangaben Band: 24, Heft: 4, Seiten: 521-528 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
POF Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504091-001
G-504091-004
G-504000-001
G-504100-001
PubMed ID 26306643
DOI 10.1038/ejhg.2015.165
WOS ID WOS:000374124800007
Scopus ID 84960377720
Erfassungsdatum 2015-08-28
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