Implementations by Phenotype

Titlesort descending Phenotype Institution Algorithm Type Total Cases Total Controls PPV Sensitivity
Northwestern University Implementation Chronic Kidney Disease Northwestern University Case, Control
Northwestern University Implementation Hearing Loss Northwestern University Case, Control
Northwestern University Validation Colorectal Cancer (CRC) Northwestern University Case, Control 50 50 86%, 98% 92%
Nortwestern University e3 Implementation CAAD (Carotid Artery Atherosclerosis Disease) Northwestern University Case, Control 48 133
NU ACE Inhibitor (ACE-I) induced cough implementation ACE Inhibitor (ACE-I) induced cough Northwestern University The Feinberg School of Medicine Case, Control 100%, 98%
NU appendicitis cases Appendicitis Northwestern University Case Only 30 100%
NU autoimmunity implementation Autoimmune Disease Phenotype Northwestern University Case, Control
NU BMI for PRS Body Mass Index (BMI) Northwestern University Case, Control
NU breast ca Breast Cancer Northwestern University Case, Control
NU C. diff. e3 new cases/ctls Clostridium Difficile Colitis Northwestern University Case, Control 75 348
NU CRF e3 update Cardiorespiratory Fitness Algorithm (eMERGE Mayo Network Phenotype) Northwestern University Case Only 1,572
NU CRS CRS (Chronic Rhinosinusitis) Northwestern University Case, Control 201 1,490 91%, 100%
NU depression data Depression Northwestern University Case, Control
NU e3 Diverticulosis Diverticulosis and Diverticulitis Northwestern University Case, Control 1,273 1,211
NU eMERGE pneumonia data Pneumonia- VUMC eMERGE v5.1 Northwestern University Case, Control
NU eMERGEseq CRC cases and controls Colorectal Cancer (CRC) Northwestern University Case, Control
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
NU FH implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Northwestern University Case, Control
NU GWAS CRC cases and controls Colorectal Cancer (CRC) Northwestern University Case, Control
NU migraine for eMERGEseq population Migraine Northwestern University Case, Control
NU migraine for GWAS & PGx population Migraine Case, Control
NU NAFLD implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Northwestern University Case, Control 57
NU ovarian/uterine cancer for GWAS, eMERGEseq & WGS datasets Ovarian/Uterine Cancer (OvUtCa) Northwestern University Case, Control 64 5,857
NU T1DM PRS implementation Type 1 Diabetes Northwestern University Case, Control 63 3,632
NU T2DM PRS implementation Type 2 Diabetes - PRS Evaluation Northwestern University Case, Control

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