Data Mining of Electronic Health Records to Identify Undiagnosed Patients with Rare Genetic Diseases
Daniel Moynihan,
Sean Monaco,
Teck Wah Ting
et al.
Abstract:Rare genetic diseases affect 5-8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining. Data mining was performed on a database containing deidentified health records of 1.28 million patients across 3 major hospitals in Singapore, in a bid to improve the diagnostic process for patients who are living with an undiagnosed rare disease, specifically focusing on Fabry Disease and Familial Hyp… Show more
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