Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controls PPVsort descending Sensitivity
OvUtCa_Mayo Clinic Ovarian/Uterine Cancer (OvUtCa) Mayo Clinic Case, Control
Migraine--Columbia Migraine Columbia University Case, Control 37 2,294
ADHD Implementation - Columbia ADHD phenotype algorithm Columbia University Case, Control 5 1,294
Marshfield Implementation Version 5 Pneumonia- VUMC eMERGE v5.1 Marshfield Clinic Research Institute Case Only
Harvard CKD Implementation Chronic Kidney Disease Case, Control 8,192 4,177
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
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
Mayo implementation Cardiorespiratory Fitness Algorithm (eMERGE Mayo Network Phenotype) Mayo Clinic Case Only
Cataracts-Columbia Cataracts Columbia University Case Only
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
CCHMC Type 2 DM Type 2 Diabetes - PRS Evaluation Case Only
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
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
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
Validation Cardiorespiratory Fitness Algorithm (eMERGE Mayo Network Phenotype) Geisinger Case Only
Anxiety - Marshfield Anxiety algorithm Marshfield Clinic Research Institute Case Only

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