Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Casessort descending Total Controls PPV Sensitivity
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
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%
CCHMC Type 2 DM Type 2 Diabetes - PRS Evaluation Case Only
KPWA/UW (primary site) implementation Colorectal Cancer (CRC) Group Health and University of Washington Case, Control
WBC Marshfield Implementation White Blood Cell Indices Marshfield Clinic Research Foundation Case Only 90% 88%
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%

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