Detecting rare diseases in electronic health records using machine learning and knowledge engineering

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With the growing adoption of the electronic health record (EHR) worldwide over the last decade, new opportunities exist for leveraging EHR data to detect rare diseases. One such rare malady that will be amenable to EHR-based detection acute hepatic porphyria (AHP). AHP consists of rare metabolic diseases characterized by potentially life-threatening acute attacks and chronic …

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