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BBMRI: Framework Selection for e-Biobanking: Identification and Evaluation of Core Services

Data2Semantics (From Data to Semantics for Scientific Data Publishers)

In the Biobanking and Bimolecular Resources Research Infrastructure (BBMRI) Biobanking initiative of The Netherlands all Dutch Biobanking groups are assembled which have collected GWAS data in their BioBanks. GWAS data are available from over 200.000 subjects participating in genetic studies for diverse diseases.

The Netherlands is participating in numerous international consortia because of its large number of well documented an dwell phenotypes cohort studies. The development of tailor made software that allows for the sophisticated mining of this collective dataset would generate high ranking deliverables in terms of discovering pathways for different human diseases and profiles which may be used as tools in early diagnostics of disease.

The current analysis of these datasets is based on comparisons between (diseased) cases and (population) controls of single genetic variants (SNPs) in datasets in which hundreds of thousands of such variants have been measured. This material lends itself extremely well for the application of novel mining tools. The goal is to generate data mining tools that allow the mining of existing genome wide scan datasets (GWAS) aimed at the identification of genetic factors and pathways involved in diverse traits and diseases.

WP Leader: