Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controlssort descending PPV Sensitivity
CHOP Part II- NONRESPONDERS Epilepsy/Antiepileptic drug response algorithm CHOP Case Only 85%
NU migraine for eMERGEseq population Migraine Northwestern University Case, Control
NAFLD_Mayo clinic implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Mayo Clinic Case, Control
HDL Marshfield Implementation High-Density Lipoproteins (HDL) Marshfield Clinic Research Foundation Case Only 82% 92%
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
RBC Marshfield Implementation Red Blood Cell Indices Marshfield Clinic Research Foundation Case Only 96% 87%
CHOP Depression Depression Case, Control
CHOP implementation Case 1 and Controls Appendicitis CHOP Case, Control 86%, 100%
CHOP Part II- RESPONDERS Epilepsy/Antiepileptic drug response algorithm Case Only 85%
Network Combined Dataset - ACE-I induced Cough ACE Inhibitor (ACE-I) induced cough Case, Control
VUMC RA Rheumatoid Arthritis (RA) Vanderbilt University Medical Center Case, Control
Height Marshfield Implementation Height Marshfield Clinic Research Foundation Case Only 87% 84%
Geisinger eMERGE-Seq Implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Geisinger Case, Control
RBC Mayo Implementation Red Blood Cell Indices Mayo Clinic Case Only 98% 94%
NU depression data Depression Northwestern University Case, Control
CHOP implementation Case 2 Appendicitis CHOP Case Only 2 50%
CCHMC - PART 1 Epilepsy/Antiepileptic drug response algorithm Cincinnati Children's Hospital Medical Center Case Only 129 86%
Mayo clinic implementation_RA Rheumatoid Arthritis (RA) Mayo Clinic Case, Control
Cardiac Conduction Marshfield Implementation Cardiac Conduction (QRS) Marshfield Clinic Research Foundation Case Only 100%
NU NAFLD implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Northwestern University Case, Control 57
Warfarin-Columbia Warfarin dose/response Columbia University Case Only
Height Northwestern Implementation Height Northwestern University Case Only 95%
Peanut Allergy-Columbia Peanut Allergy Columbia University Case Only
ADHD Validation (CCHMC) ADHD phenotype algorithm Cincinnati Children's Hospital Medical Center Case, Control 89%, 95%
RBC Northwestern Implementation Red Blood Cell Indices Northwestern University Case Only 98% 91%

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