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Chunk #13 — Curating the EHR phenome enables PheWAS

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Integrating electronic health record genotype and phenotype datasets to transform patient care.
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Prospectively-acquired datasets such as the UK Biobank or community cohorts such as Framingham or Jackson Heart and others acquire data in a predefined and comprehensive fashion. By contrast, the EHR represents the range of conditions and follow-up for which patients seek medical attention. Unlike prospective cohorts, the EHR does not provide unambiguous cases and controls. Rather, as outlined above, algorithms using a variety of different data sources need to be developed and validated.