Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Casessort descending Total Controls PPV Sensitivity
NU GWAS CRC cases and controls Colorectal Cancer (CRC) Northwestern University Case, Control
Warfarin-Columbia Warfarin dose/response Columbia University Case Only
T2D Marshfield Implementation Type 2 Diabetes Mellitus Marshfield Clinic Research Foundation Case, Control 99%, 98% 100%, 98%
Columbia_T1DM Type 1 Diabetes Case, Control
ADHD Validation (CCHMC) ADHD phenotype algorithm Cincinnati Children's Hospital Medical Center Case, Control 89%, 95%
RA for NU eMERGEseq only population Rheumatoid Arthritis (RA) Northwestern University Case, Control
Vanderbilt evaluation for Diverticulosis Diverticulosis and Diverticulitis Vanderbilt University Case Only 88%
Harvard_SLE_Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria Case, Control
Coronary Heart Disease-Columbia MidSouth CDRN - Coronary Heart Disease Algorithm Columbia University Case Only
Vanderbilt University Medical Center eMERGE Depression Depression Vanderbilt University Medical Center Case, Control
Fibromyalgia in Rheumatoid Arthritis-Columbia Identification of Fibromyalgia Patients in a Rheumatoid Arthritis Cohort Columbia University Case Only
Drug Induced Liver Injury -Columbia Implementation Drug Induced Liver Injury Columbia University Case Only
Hypothyroidism Mayo Implementation Hypothyroidism Mayo Clinic Case, Control 82%, 96% 99%
VUMC_T2DM Type 2 Diabetes - PRS Evaluation VUMC Case Only
Geisinger Dataset Rheumatology Auto-Immune characteristics Geisinger Case Only
Mayo Clinic CRC implicataion Colorectal Cancer (CRC) Mayo Clinic Case, Control
T2D Northwestern Implementation Type 2 Diabetes Mellitus Northwestern University Case, Control 98%, 100% 100%, 100%
Mount Sinai Type 1 Diabetes Mount Sinai Case, Control
CHOP implementation ADHD phenotype algorithm CHOP Case, Control 96%, 96%
KPWA Pneumonia- VUMC eMERGE v5.1 KPWA Case, Control
Geisinger CAAD Implementation CAAD (Carotid Artery Atherosclerosis Disease) Geisinger Case, Control
Geisinger Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria Geisinger Case Only
Cataracts Marshfield Implementation Cataracts Marshfield Clinic Research Foundation Case, Control 98%, 98% 99%, 94%
NU FH implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Northwestern University Case, Control
Healthy Weight-Columbia MidSouth CDRN - Healthy Weight Algorithm Columbia University Case Only

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