Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controls PPV Sensitivitysort descending
Northwestern Univ. CAAD CAAD (Carotid Artery Atherosclerosis Disease) Northwestern University Case, Control 44 461
Diverticulosis Implementation - Columbia Diverticulosis and Diverticulitis Columbia University Case, Control 66 689
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%
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
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

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