Skip to Main Content

Paper Details

Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria.
PLoS One
19
2020
AHP, Acute intermittent [hepatic] porphyria, acute hepatic porphyria, metabolic diseases, patient, patients, porphyria, rare diseases
Databases, Factual, Electronic Health Records, Female, Humans, Knowledge, Machine Learning, Male, Porphobilinogen Synthase, Porphyrias, Hepatic
Author NameAffiliation
Steven ChamberlinDepartment of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University
Thomas G DeLougheryDepartment of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University
Michelle NguyenDepartment of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University
Steven BedrickDepartment of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University
Stephen MeningerAlnylam Pharmaceuticals
John J KoAlnylam Pharmaceuticals
Jigar J AminAlnylam Pharmaceuticals
Alex J WeiAlnylam Pharmaceuticals
William HershDepartment of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University
  • 1 - 9

Datasets

Release 1.2