Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controls PPV Sensitivitysort descending
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
appendicitis CHOP eMERGE III Appendicitis CHOP Case, Control
Vanderbilt Zoster Implementation Herpes Zoster Vanderbilt University Case, Control 96%, 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%
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
Group Health/University of Washington CAAD Implementation CAAD (Carotid Artery Atherosclerosis Disease) Group Health/University of Washington Case, Control 300 4,475 96%, 100%
Harvard CDiff Clostridium Difficile Colitis Harvard Medical School Case Only 47 1,643
CCHMC - LUPUS _IMPLEMENTATION SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria Case Only
NAFLD KPWA Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) KPWA/UW Case, Control 383 5,236
Vanderbilt evaluation for Diverticulosis Diverticulosis and Diverticulitis Vanderbilt University Case Only 88%

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