Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Casessort descending Total Controls PPV Sensitivity
Marshfield Venous Thromboembolism implementation Venous Thromboembolism (VTE) Marshfield Clinic Research Foundation Case, Control 50 49 98%, 100%
Statin and MACE Mount Sinai Implementation Statins and MACE Mount Sinai Case Only 52 25 96%, 100% 100%, 100%
NU NAFLD implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Northwestern University Case, Control 57
Mayo FH Implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Mayo Clinic Case, Control 58 42 100%, 98% 100%, 100%
Marshfield Implementation Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Marshfield Clinic Research Foundation Case, Control 59 1,564
Zoster Implementation - Columbia Herpes Zoster Columbia University Case, Control 61 1,031
Geisinger Implementation Epilepsy/Antiepileptic drug response algorithm Geisinger Case, Control 61 6,414
NU ovarian/uterine cancer for GWAS, eMERGEseq & WGS datasets Ovarian/Uterine Cancer (OvUtCa) Northwestern University Case, Control 64 5,857
Diverticulosis Implementation - Columbia Diverticulosis and Diverticulitis Columbia University Case, Control 66 689
Marshfield implementation CAAD (Carotid Artery Atherosclerosis Disease) Marshfield Clinic Research Foundation Case, Control 71 435 100%, 100% 100%
KPWA/UW (primary site) implementation Ovarian/Uterine Cancer (OvUtCa) KPWA/UW Case, Control 73 4,425
KPWHRI RA Rheumatoid Arthritis (RA) KPWHRI Case, Control 74 6,737
KPWHRI RA revised 03jan2018 Rheumatoid Arthritis (RA) KPWHRI Case, Control 74 6,737
NU C. diff. e3 new cases/ctls Clostridium Difficile Colitis Northwestern University Case, Control 75 348
GERD Implementation - Columbia Gastroesophageal Reflux Disease (GERD) Phenotype Algorithm Columbia University Case, Control 76 259
Harvard ADHD ADHD phenotype algorithm Case, Control 80 1,581
Adult FH Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia KPWHRI Case, Control 83 1,765
CKD_CHOP Chronic Kidney Disease CHOP Case, Control 84 80
Breast Cancer_Columbia Breast Cancer Columbia University Case, Control 87 79 94%, 99%
Harvard - Adult Familial Hypercholesterolemia Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia Partners Healthcare Case, Control 94 990
Harvard CRC Implementation Colorectal Cancer (CRC) Harvard Medical School Case, Control 95 10,388
RA for NU GWAS population Rheumatoid Arthritis (RA) Northwestern University Case, Control 96 3,987
Columbia - Hearing Loss Hearing Loss Columbia University Medical Center Case, Control 97 2,334
CHOP Post-event Pain Post-event Pain algorithm CHOP Case, Control 99 2 96%
Mayo Clinic eMERGE III Implementation Clostridium Difficile Colitis Mayo Clinic Case, Control 103 4,494

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