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About the data

    2000 patients and 500 healthy controls.

    All patients have a manually curated ICD10 diagnosis code.

    Data Modalities:​

    The clinical lab data:​

    between 0 to 30 terms and parameters per subject with abnormal findings being translated into HPO-Terms and introduced into knowledge graph.​​

    • Blood Test Measurements​

    • Urine Test Measurement. ​

    Unstructured data ​

    • Medical History Questionnaire (about 900 questions) ​

    • Doctor’s Letters​

    Genomics data​

    • Top 10-20 prominent genes selected from about 6000 mutations per subject. Genetic variations that showed a CADD-score of 6 or higher were selected and only the variant with highest value per gene was chosen.​​

    Proteomics data ​

    • Between 1000-2000 proteins with quantitative values for each subject.​​ ​