HIGHLIGHTS
- who: James M. Havrilla from the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA have published the paper: PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care, in the Journal: (JOURNAL)
- what: The authors demonstrate how the tool has improved the accuracy, speed and willingness of physicians in phenotyping their patients at a major genetic testing center for pediatric patients. The authors provide a realistic example of how discrete, structured phenotyping of patients can lead to a genetic diagnosis in disease. The ease of . . .
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