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
ACEi Cough Implementation - Columbia ACE Inhibitor (ACE-I) induced cough Columbia University Case, Control 17 233
CHOP anxiety Anxiety algorithm CHOP Case, Control
AFH Implementation Columbia (updated) Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Columbia University Case, Control
Vanderbilt March 2016 Appendicitis Vanderbilt University Medical Center Case, Control
Venous Thromboembolism Implementation - Columbia Venous Thromboembolism (VTE) Columbia University Case, Control 419 2,574
Cardiac Conduction Marshfield Implementation Cardiac Conduction (QRS) Marshfield Clinic Research Foundation Case Only 100%
Mount Sinai -- T2DM Type 2 Diabetes - PRS Evaluation Mount Sinai Case Only
Harvard - AID Implementation Autoimmune Disease Phenotype Case, Control 6,298 5,389
Northwestern University Validation Colorectal Cancer (CRC) Northwestern University Case, Control 50 50 86%, 98% 92%
Mayo Clinic DILI implementation Drug Induced Liver Injury Mayo Clinic Case, Control 16%, 100%
Height Implementation - Columbia Height Columbia University Case Only
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
Early Childhood Obesity Implementation - Columbia Severe Early Childhood Obesity Columbia University Case, Control 2 3
RBC Implementation - Columbia Red Blood Cell Indices Columbia University Case Only
Pneumonia_data_4_7_institutes Pneumonia- VUMC eMERGE v5.1 Case Only
CKD_CHOP Chronic Kidney Disease CHOP Case, Control 84 80
Marshfield implementation CAAD (Carotid Artery Atherosclerosis Disease) Marshfield Clinic Research Foundation Case, Control 71 435 100%, 100% 100%
Mayo Clinic eMERGE III Implementation Clostridium Difficile Colitis Mayo Clinic Case, Control 103 4,494
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
VU Implementation Gastroesophageal Reflux Disease (GERD) Phenotype Algorithm Vanderbilt University Case, Control 1,642 2,862
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

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