Title Phenotype Institution Algorithm Typesort descending Total Cases Total Controls PPV Sensitivity
ADHD Validation (CCHMC) ADHD phenotype algorithm Cincinnati Children's Hospital Medical Center Case, Control 0.89, 0.95
NU GWAS CRC cases and controls Colorectal Cancer (CRC) Northwestern University Case, Control
RA for NU eMERGEseq only population Rheumatoid Arthritis (RA) Northwestern University Case, Control
Marshfield Implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Marshfield Clinic Research Foundation Case, Control 59 1,564
Columbia Implementation Ovarian/Uterine Cancer (OvUtCa) Columbia University Case, Control 19 1,265
KPWHRI SLE Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria KPWHRI Case, Control
T2D Northwestern Implementation Type 2 Diabetes Mellitus Northwestern University Case, Control 0.98, 1.00 1.00, 1.00
Marshfield diverticulosis/diverticulitis implementation Diverticulosis and Diverticulitis Marshfield Clinic Research Foundation Case, Control 50 50 1.00, 1.00
CHOP implementation ADHD phenotype algorithm CHOP Case, Control 0.96, 0.96
Mayo Clinic CRC implicataion Colorectal Cancer (CRC) Mayo Clinic Case, Control
CKD_Columbia University Chronic Kidney Disease Columbia University Case, Control 2,019 256
Adult FH Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia KPWHRI Case, Control 83 1,765
KPWA/UW (primary site) implementation Ovarian/Uterine Cancer (OvUtCa) KPWA/UW Case, Control 73 4,425
Harvard_SLE_Implementation SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria Case, Control
Cataracts Marshfield Implementation Cataracts Marshfield Clinic Research Foundation Case, Control 0.98, 0.98 0.99, 0.94
T2D Vanderbilt Implementation Type 2 Diabetes Mellitus Vanderbilt University Case, Control 1.00, 1.00
Network Combined Dataset - Diverticulosis Diverticulosis and Diverticulitis Case, Control 6,173 4,969
Validation of Asthma Algorithm Asthma CHOP Case, Control 0.96, 0.98
Harvard ADHD ADHD phenotype algorithm Case, Control 80 1,581
Appendicitis Case 1, Control Appendicitis Cincinnati Children's Hospital Medical Center Case, Control 15 20 0.93, 1.00
NU eMERGEseq CRC cases and controls Colorectal Cancer (CRC) Northwestern University Case, Control
Geisinger CKD Implementation Chronic Kidney Disease Geisinger Case, Control
NU FH implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Northwestern University Case, Control
Ovarian_Uterine Cancer_Mayo clinic Implementation Ovarian/Uterine Cancer (OvUtCa) Mayo Clinic Case, Control
Harvard CKD Implementation Chronic Kidney Disease Case, Control 8,192 4,177

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