Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controls PPV Sensitivitysort descending
Marshfield Implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Marshfield Clinic Research Foundation Case, Control 59 1,564
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%
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
Columbia_T1DM Type 1 Diabetes Case, Control
Columbia Implementation Ovarian/Uterine Cancer (OvUtCa) Columbia University Case, Control 19 1,265
Geisinger Impl Migraine Geisinger Case, Control 762 5,266
ADHD Validation (CCHMC) ADHD phenotype algorithm Cincinnati Children's Hospital Medical Center Case, Control 89%, 95%
Harvard CDiff Clostridium Difficile Colitis Harvard Medical School Case Only 47 1,643
Harvard Pneumonia Pneumonia- VUMC eMERGE v5.1 Case, Control 138 11,637
RA for NU eMERGEseq only population Rheumatoid Arthritis (RA) Northwestern University Case, Control
Mount Sinai Implementation CAAD (Carotid Artery Atherosclerosis Disease) Mount Sinai School of Medicine Case, Control 105 5,180
Vanderbilt evaluation for Diverticulosis Diverticulosis and Diverticulitis Vanderbilt University Case Only 88%
KPWHRI SLE Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria KPWHRI Case, Control
Geisinger Implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Geisinger Case, Control 548 10,331
Group Health and UW Zoster Implementation Herpes Zoster Group Health and UW Case, Control 25 25 100%, 96% 100%
Cardiac Conduction Vanderbilt Implementation Cardiac Conduction (QRS) Vanderbilt University Case Only 103 97%
Geisinger Impl Depression Geisinger Case, Control
Adult FH Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia KPWHRI Case, Control 83 1,765
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
VUMC_T2DM Type 2 Diabetes - PRS Evaluation VUMC Case Only

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