Article
Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2023
Tinker Rory J, Peterson Josh, Bastarache Lisa
Abstract excerpt
PURPOSE: To investigate the phenotypic presentation of Mendelian disease across the diagnostic trajectory in the electronic health record (EHR). METHODS: We applied a conceptual model to delineate the diagnostic trajectory of Mendelian disease to the EHRs of patients affected by 1 of 9 Mendelian diseases. We assessed data availability and phenotype ascertainment across the diagnostic trajectory using phenotype...
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