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a knowledgebase for discovering phenotypes from electronic medical records
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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
Autism Validation
Autism
CHOP
Case Only
50
0.85
0.74
Autoimmune Disease Phenotype_Mayo implementation
Autoimmune Disease Phenotype
Mayo Clinic
Case, Control
Breast Cancer_Columbia
Breast Cancer
Columbia University
Case, Control
87
79
0.94, 0.99
CAAD Implementation - Columbia
CAAD (Carotid Artery Atherosclerosis Disease)
Columbia University
Case, Control
9
1,530
caMRSA chart verification
caMRSA
GHRI/UW
Case, Control
72
2,310
1.00, 1.00
1.00, 1.00
caMRSA Implementation - Columbia
caMRSA
Columbia University
Case, Control
4
2,225
Cardiac Conduction (QRS) Implementation - Columbia
Cardiac Conduction (QRS)
Columbia University
Case Only
396
Cardiac Conduction Marshfield Implementation
Cardiac Conduction (QRS)
Marshfield Clinic Research Foundation
Case Only
1.00
Cardiac Conduction Northwestern Implementation
Cardiac Conduction (QRS)
Northwestern University
Case Only
0.97
0.97
Cardiac Conduction Vanderbilt Implementation
Cardiac Conduction (QRS)
Vanderbilt University
Case Only
103
0.97
Cataracts Marshfield Implementation
Cataracts
Marshfield Clinic Research Foundation
Case, Control
0.98, 0.98
0.99, 0.94
Cataracts Vanderbilt Implementation
Cataracts
Vanderbilt University
Case Only
0.96
Cataracts-Columbia
Cataracts
Columbia University
Case Only
CCHMC - AID Phenotype
Autoimmune Disease Phenotype
Case, Control
277
452
CCHMC - LUPUS _IMPLEMENTATION
SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria
Case Only
CCHMC - PART 1
Epilepsy/Antiepileptic drug response algorithm
Cincinnati Children's Hospital Medical Center
Case Only
129
0.86
CCHMC BMI Implementation
Body Mass Index (BMI)
Case Only
CCHMC Primary Validation
Migraine
Case Only
0.92
CCHMC T1D Implementation
Type 1 Diabetes
Case Only
CCHMC Type 2 DM
Type 2 Diabetes - PRS Evaluation
Case Only
CDiff Implementation - Columbia
Clostridium Difficile Colitis
Columbia University
Case, Control
107
139
CDiff NU implementation - May 2012 chart review
Clostridium Difficile Colitis
Northwestern University
Case, Control
0.90, 0.95
0.95
CHOP
Body Mass Index (BMI)
CHOP
Case Only
CHOP
Type 1 Diabetes
CHOP
Case, Control
CHOP AID
Autoimmune Disease Phenotype
CHOP
Case, Control
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