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Chunk #16 — Other applications of phenome scanning

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Integrating electronic health record genotype and phenotype datasets to transform patient care.
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PheWAS highlights the value of a curated EHR-based phenome and opens the possibility of using other approaches to interrogate this dataset. For example, the large-scale eMERGE study identified 63 phenotypes at a P value < 4.6 × 10−6 with previously-unreported associations with specific SNPs, complementing the SCN10A-atrial fibrillation and the FOXE1-atrial arrhythmia examples and highlighting the potential for PheWAS as a tool for discovery of genetic pleiotropy.