Integrating laboratory tests for deep phenotyping and biomarker discovery

Clinical laboratory tests are one of the key components of electronic health records and contain rich patient phenotypic information. However, there are often multiple similar laboratory tests for the same medical issue, creating a data integration problem when being used for translational research. In our paper, we presented a novel approach that allows one to semantically integrate laboratory tests by mapping their results into Human Phenotype Ontology terms. The transformation generated detailed patient phenotypic profiles that can be used for biomarker screen.
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May 02, 2019