Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

Background Data mining of electronic health records to identify patients suspected of familial hypercholesterolemia (FH) has been limited by absence of both phenotypic and genomic data in the same cohort. Methods and Results Using the Geisinger MyCode Community Health Initiative cohort (n=130 257),...

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Bibliographic Details
Main Authors: Samuel S. Gidding, H. Lester Kirchner, Andrew Brangan, William Howard, Melissa A. Kelly, Kelly D. Myers, Kelly M. Morgan, Matthew T. Oetjens, Timothy C. Shuey, David Staszak, Natasha T. Strande, Nicole L. Walters, Kristen D. Yu, Katherine A. Wilemon, Marc S. Williams, Amy C. Sturm, Laney K. Jones
Format: Article
Language:English
Published: Wiley 2023-07-01
Series:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Subjects:
electronic health records
familial hypercholesterolemia
genetic testing
machine learning
Online Access:https://www.ahajournals.org/doi/10.1161/JAHA.123.030073

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https://www.ahajournals.org/doi/10.1161/JAHA.123.030073

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