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Chunk #32 — 5. Study Design — 5.3 Phenotype Extraction from Electronic Medical Records

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Chapter 11: Genome-wide association studies.
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Once a manageable subset of records is obtained by an algorithm, the accuracy of the results is examined by clinicians or other phenotype experts as gold-standard for comparison. The positive predictive value (PPV) of the initial algorithm is assessed, and based on feedback from case reviewers, the selection algorithm is refined. This process of case-review followed by algorithmic refinement is continued until the desired PPV is reached.