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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出版年:	Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
主要な著者:	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
フォーマット:	論文
言語:	英語
出版事項:	Wiley 2023-07-01
主題:	electronic health records familial hypercholesterolemia genetic testing machine learning
オンライン･アクセス:	https://www.ahajournals.org/doi/10.1161/JAHA.123.030073