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Optimizing Electronic Health Record Data for Diagnosing Rare Diseases

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This literature review examines ways to better use electronic health record data for the diagnosis and management of patients with rare disease.

The authors state that they “examine the research that provides solutions to unlock these barriers and accelerate translational research: structured electronic health records and free-text search engines to find patients, data warehouses and natural language processing to extract phenotypes, machine learning algorithms to classify patients, and similarity metrics to diagnose patients.”

Read the full review here.


Garcelon N, Burgun A, Salomon R, Neuraz A. Electronic health records for the diagnosis of rare diseases. Kidney Int. 2020:[Online ahead of print]. DOI: 10.1016/j.kint.2019.11.037.

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