Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controlssort descending PPV Sensitivity
Sleep Apnea-Columbia Sleep Apnea Phenotype Columbia University Case Only
Mayo Clinic DILI implementation Drug Induced Liver Injury Mayo Clinic Case, Control 16%, 100%
Height Implementation - Columbia Height Columbia University Case Only
CHOP_T2D Type 2 Diabetes - PRS Evaluation CHOP Case, Control
RBC Implementation - Columbia Red Blood Cell Indices Columbia University Case Only
VUMC_T1DM Type 1 Diabetes VUMC Case, Control
CCHMC Primary Validation Migraine Case Only 92%
CHOP Pneumonia Pneumonia- VUMC eMERGE v5.1 CHOP Case, Control
Mayo CAAD cases and controls CAAD (Carotid Artery Atherosclerosis Disease) Mayo Case, Control 13 100% 71%
Diverticulosis May 2012 Implementation Diverticulosis and Diverticulitis Northwestern University The Feinberg School of Medicine Case, Control 98%, 89% 99%, 98%
Marshfield SLE Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria Marshfield Clinic Research Institute Case Only
Vanderbilt Zoster Implementation Herpes Zoster Vanderbilt University Case, Control 96%, 100%
Cardiac Conduction Northwestern Implementation Cardiac Conduction (QRS) Northwestern University Case Only 97% 97%
Mayo Depression Algorithm Implementation Depression Mayo Clinic Case, Control
Validation on 75 RA patients Identification of Fibromyalgia Patients in a Rheumatoid Arthritis Cohort Vanderbilt University Case Only 97%
Marshfield DILI algorithm implementation Drug Induced Liver Injury Marshfield Clinic Research Foundation Case, Control 10%
Hypothyroidism Marshfield Implementation Hypothyroidism Marshfield Clinic Research Foundation Case, Control 97%, 100% 100%
MGB - T2DM Type 2 Diabetes - PRS Evaluation Case Only
Northwestern University Implementation Hearing Loss Northwestern University Case, Control
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

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