PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations

  title={PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations},
  author={Joshua C. Denny and Marylyn DeRiggi Ritchie and Melissa A. Basford and Jill M. Pulley and Lisa Bastarache and Kristin Brown-Gentry and Deede Wang and Daniel R. Masys and Dan M. Roden and Dana C. Crawford},
MOTIVATION Emergence of genetic data coupled to longitudinal electronic medical records (EMRs) offers the possibility of phenome-wide association scans (PheWAS) for disease-gene associations. We propose a novel method to scan phenomic data for genetic associations using International Classification of Disease (ICD9) billing codes, which are available in most EMR systems. We have developed a code translation table to automatically define 776 different disease populations and their controls using… CONTINUE READING


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