Søknad til EU, EIC Accelerator program. ADSS-RD: Anzyz Diagnostic Support System for Rare Diseases

1: We will develop a probabilistic expert system that relates rare diseases to possible symptoms, in the form of a Bayesian network, employing state-of-the-art software (e.g., https://www.hugin.com). The resulting probabilistic expert system will incorporate the linguistic knowledge of the knowledge base. A Bayesian network is capable of explaining its predictions, and our system will explain how findings in the inputted patient data can be related to rare diseases from Orphanet. 2:Anzyz CCLTM rare disease linguistics knowledge base built from the patient narratives of electronic health records. The knowledge base contains linguistic concepts for every symptom type, and how these are expressed linguistically in the patient narratives. 3: Module for incorporating/importing patient narratives into the system. The module will connect to existing data sources offered by health data partners, allowing the building of the Anzyz CCLTM knowledge base. The module will also facilitate live entry of data from the transcription of a conversation between patient and GP.