Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controls PPV Sensitivitysort descending
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
Group Health and UW Zoster Implementation Herpes Zoster Group Health and UW Case, Control 25 25 100%, 96% 100%
Severe Early Childhood Obesity- CHOP Severe Early Childhood Obesity The Children's Hospital of Philadelphia Case, Control 96%, 96%
Harvard ADHD ADHD phenotype algorithm Case, Control 80 1,581
Hypothyroidism Implementation - Columbia Hypothyroidism Columbia University Case, Control 45 129
NU appendicitis cases Appendicitis Northwestern University Case Only 30 100%
Geisinger Implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Geisinger Case, Control 548 10,331
Vanderbilt evaluation for Diverticulosis Diverticulosis and Diverticulitis Vanderbilt University Case Only 88%
Geisinger eMERGE-Seq Implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Geisinger Case, Control
Marshfield Zoster implementation Herpes Zoster Marshfield Clinic Research Foundation Case, Control 10 10 100%, 100%
Severe Early Childhood Obesity - Vanderbilt Severe Early Childhood Obesity Vanderbilt Case, Control 99%, 98%
ADHD Implementation - Columbia ADHD phenotype algorithm Columbia University Case, Control 5 1,294
Sleep Apnea-Columbia Sleep Apnea Phenotype Columbia University Case Only
WBC Implementation - Columbia White Blood Cell Indices Columbia University Case Only
Harvard_NAFLD_Implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Case, Control 453 9,273
Marshfield diverticulosis/diverticulitis implementation Diverticulosis and Diverticulitis Marshfield Clinic Research Foundation Case, Control 50 50 100%, 100%
Peanut Allergy-Columbia Peanut Allergy Columbia University Case Only
Geisinger Zoster Implementation Herpes Zoster Geisinger Case, Control 27 27 89%, 96% 100%
Early Childhood Obesity Implementation - Columbia Severe Early Childhood Obesity Columbia University Case, Control 2 3
Dementia Vanderbilt Implementation Dementia Vanderbilt University Case Only 84%
Lipids Northwestern Implementation Lipids Northwestern University Case Only 92%
Validation on 75 RA patients Identification of Fibromyalgia Patients in a Rheumatoid Arthritis Cohort Vanderbilt University Case Only 97%
Resistant hypertension Implementation - Columbia Resistant hypertension Columbia University Case, Control 249 1,031
NAFLD Implementation_Columbia Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Columbia University Case, Control 24 4,371
Network Combined Dataset - Diverticulosis Diverticulosis and Diverticulitis Case, Control 6,173 4,969

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