Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controls PPV Sensitivitysort descending
Cataracts-Columbia Cataracts Columbia University Case Only
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
CHOP Part II- NONRESPONDERS Epilepsy/Antiepileptic drug response algorithm CHOP Case Only 85%
Asthma Algorithm Validation - CCHMC Asthma Cincinnati Children's Hospital Medical Center Case, Control 96%, 82%
Hypothyroidism Vanderbilt Implementation Hypothyroidism Vanderbilt University Case, Control 98%, 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%
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
Atopic dermatitis implementation - Marshfield Atopic Dermatitis Algorithm Marshfield Clinic Research Foundation Case, Control 96%, 90%
Demonstration Project MS Implementation Multiple Sclerosis - Demonstration Project Vanderbilt University Case, Control 87%, 100%
Breast Cancer_Columbia Breast Cancer Columbia University Case, Control 87 79 94%, 99%
Northwestern University Implementation Chronic Kidney Disease Northwestern University Case, Control
Geisinger eMERGE III Implementation CAAD (Carotid Artery Atherosclerosis Disease) Geisinger Case, Control 1,795 8,838
Harvard Implementation Diverticulosis and Diverticulitis Harvard Medical School Case, Control 884 770
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
CHOP implementation Case 2 Appendicitis CHOP Case Only 2 50%
Validation Cardiorespiratory Fitness Algorithm (eMERGE Mayo Network Phenotype) Geisinger Case Only
Anxiety - Marshfield Anxiety algorithm Marshfield Clinic Research Institute Case Only
Geisinger eMERGE-Seq Implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Geisinger Case, Control
CHOP Part II- RESPONDERS Epilepsy/Antiepileptic drug response algorithm Case Only 85%

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