Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controls PPV Sensitivitysort descending
Marshfield NAFLD Implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Case Only
Appendicitis Case 2-MED Appendicitis Cincinnati Children's Hospital Medical Center Case Only 90%
Zoster Implementation - Columbia Herpes Zoster Columbia University Case, Control 61 1,031
Cataracts Vanderbilt Implementation Cataracts Vanderbilt University Case Only 96%
CHOP anxiety Anxiety algorithm CHOP Case, Control
AFH Implementation Columbia (updated) Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Columbia University Case, Control
CHOP Part II- NONRESPONDERS Epilepsy/Antiepileptic drug response algorithm CHOP Case Only 85%
Asthma Algorithm Validation - CCHMC Asthma Cincinnati Children's Hospital Medical Center Case, Control 96%, 82%
Hypothyroidism Vanderbilt Implementation Hypothyroidism Vanderbilt University Case, Control 98%, 100%
CCHMC Type 2 DM Type 2 Diabetes - PRS Evaluation Case Only
Columbia - AID Phenotype Autoimmune Disease Phenotype Columbia University Case, Control 132 29 86%, 93%
KPWA/UW (primary site) implementation Colorectal Cancer (CRC) Group Health and University of Washington Case, Control
Early Childhood Obesity Implementation - Columbia Severe Early Childhood Obesity Columbia University Case, Control 2 3
NU ovarian/uterine cancer for GWAS, eMERGEseq & WGS datasets Ovarian/Uterine Cancer (OvUtCa) Northwestern University Case, Control 64 5,857
Demographics and HxDiseasDx Data Files Migraine KPWHRI Case, Control 362 2,146
Atopic dermatitis implementation - Marshfield Atopic Dermatitis Algorithm Marshfield Clinic Research Foundation Case, Control 96%, 90%
Demonstration Project RA Implementation Rheumatoid Arthritis - Demonstration Project Vanderbilt University Case, Control 97%, 100%
Pneumonia_data_4_7_institutes Pneumonia- VUMC eMERGE v5.1 Case Only
CKD_CHOP Chronic Kidney Disease CHOP Case, Control 84 80
CAAD Implementation - Columbia CAAD (Carotid Artery Atherosclerosis Disease) Columbia University Case, Control 9 1,530
Geisinger eMERGE3 Combined Implementation Diverticulosis and Diverticulitis Geisinger Case, Control 97%, 94%
Columbia Lupus Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria Columbia University Medical Center Case, Control
NAFLD_Mayo clinic implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Mayo Clinic Case, Control
CHOP implementation Case 1 and Controls Appendicitis CHOP Case, Control 86%, 100%
Mayo implementation Cardiorespiratory Fitness Algorithm (eMERGE Mayo Network Phenotype) Mayo Clinic Case Only

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