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Implementations by Phenotype
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Phenotypes
Title
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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
0.86, 0.98
0.92
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
1.00, 0.98
NU appendicitis cases
Appendicitis
Northwestern University
Case Only
30
1.00
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
0.91, 1.00
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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