Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controlssort descending PPV Sensitivity
CHOP SLE Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria CHOP Case, Control
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%

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