Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controlssort ascending PPV Sensitivity
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%
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 I Epilepsy/Antiepileptic drug response algorithm CHOP Case, Control 92%
Validation of Asthma algorithm - Marshfield Asthma Marshfield Clinic Case, Control 96%, 96%
Hypothyroidism GHC Implementation Hypothyroidism Group Health Cooperative Case, Control 98%, 100%
Mount Sinai -- T2DM Type 2 Diabetes - PRS Evaluation Mount Sinai Case Only
Marshfield CRC Implementation Colorectal Cancer (CRC) Marshfield Clinic Research Institute Case Only
Severe Early Childhood Obesity - Vanderbilt Severe Early Childhood Obesity Vanderbilt Case, Control 99%, 98%
OvUtCa_Mayo Clinic Ovarian/Uterine Cancer (OvUtCa) Mayo Clinic Case, Control
Demonstration Project T2D Implementation Type 2 Diabetes - Demonstration Project Vanderbilt University Case, Control 100%, 100%
Marshfield Implementation Version 5 Pneumonia- VUMC eMERGE v5.1 Marshfield Clinic Research Institute Case Only
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
Cataracts-Columbia Cataracts Columbia University Case Only
Anxiety - CCHMC Anxiety algorithm Cincinnati Children's Hospital Medical Center Case, Control 100%, 100%
NU FH 2018 with chart reviewed family hx and NLP for FH sx Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Northwestern University Case Only
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%

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