Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controlssort descending PPV Sensitivity
AFH Implementation Columbia (updated) Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Columbia University Case, Control
Vanderbilt Zoster Implementation Herpes Zoster Vanderbilt University Case, Control 96%, 100%
Severe Early Childhood Obesity - CCHMC Severe Early Childhood Obesity Cincinnati Children's Hospital Medical Center Case Only 428 90% 72%
Cataracts-Columbia Cataracts Columbia University Case Only
CHOP implementation ADHD phenotype algorithm CHOP Case, Control 96%, 96%
Hypothyroidism Vanderbilt Implementation Hypothyroidism Vanderbilt University Case, Control 98%, 100%
WBC Marshfield Implementation White Blood Cell Indices Marshfield Clinic Research Foundation Case Only 90% 88%
Diverticulosis May 2012 Implementation Diverticulosis and Diverticulitis Northwestern University The Feinberg School of Medicine Case, Control 98%, 89% 99%, 98%
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
Severe Early Childhood Obesity- CHOP Severe Early Childhood Obesity The Children's Hospital of Philadelphia Case, Control 96%, 96%
Dementia Marshfield Implementation Dementia Marshfield Clinic Research Foundation Case, Control 90%, 97% 37%, 99%
NU appendicitis cases Appendicitis Northwestern University Case Only 30 100%
WBC Northwestern Implementation White Blood Cell Indices Northwestern University Case Only 85% 100%
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
Severe Early Childhood Obesity - Vanderbilt Severe Early Childhood Obesity Vanderbilt Case, Control 99%, 98%
Dementia GHC Implementation Dementia Group Health Cooperative Case Only 73% 55%
Lipids Marshfield Implementation Lipids Marshfield Clinic Research Foundation Case Only 79% 95%
Sleep Apnea-Columbia Sleep Apnea Phenotype Columbia University Case Only
WBC Implementation - Columbia White Blood Cell Indices Columbia University Case Only
Peanut Allergy-Columbia Peanut Allergy Columbia University Case Only
Dementia Vanderbilt Implementation Dementia Vanderbilt University Case Only 84%
Vanderbilt Implementation of CHD MidSouth CDRN - Coronary Heart Disease Algorithm Vanderbilt University Case Only 98% 95%
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%

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