2019 · 15 citations · 8 references
ComputingBiomedical InformaticsHealth InformaticsBig Data AnalyticsClinical InformaticsElectronic Health RecordsData IntegrationData InteroperabilityElectronic Health Record AnalyticsElectronic Health Record IntegrationGenomic Data IntegrationBiomedical Data IntegrationBiomedical Knowledge IntegrationElectronic Health Record DataHealth Data IntegrationHealth Information IntegrationHealthcare Data IntegrationHeterogeneous Data FusionKnowledge Base Construction
The vision of IASIS project is to turn the wave of big biomedical data heading our way into actionable knowledge for decision makers. This is achieved by integrating data from disparate sources, including genomics, electronic health records and bibliography, and applying advanced analytics methods to discover useful patterns. The goal is to turn large amounts of available data into actionable information to authorities for planning public health activities and policies. The integration and analysis of these heterogeneous sources of information will enable the best decisions to be made, allowing for diagnosis and treatment to be personalised to each individual. The project offers a common representation schema for the heterogeneous data sources. The iASiS infrastructure is able to convert clinical notes into usable data, combine them with genomic data, related bibliography, image data and more, and create a global knowledge base. This facilitates the use of intelligent methods in order to discover useful patterns across different resources. Using semantic integration of data gives the opportunity to generate information that is rich, auditable and reliable. This information can be used to provide better care, reduce errors and create more confidence in sharing data, thus providing more insights and opportunities. Data resources for two different disease categories are explored within the iASiS use cases, dementia and lung cancer.
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ClinVar: public archive of interpretations of clinically relevant variants
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COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
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The European Genome-phenome Archive of human data consented for biomedical research
Ilkka Lappalainen, J. P. Almeida, Vasudev Kumanduri et al. · Nature Genetics · 2015 · 378 citations · Full text