Implementations by Phenotype

Title Phenotype Institution Algorithm Type Total Cases Total Controlssort descending PPV Sensitivity
Harvard Intellectual Disability Intellectual Disability Case, Control 15 5,767
NU ovarian/uterine cancer for GWAS, eMERGEseq & WGS datasets Ovarian/Uterine Cancer (OvUtCa) Northwestern University Case, Control 64 5,857
Intellectual disability Adult population Intellectual Disability Vanderbilt Case, Control 25 6,231
Geisinger Implementation Epilepsy/Antiepileptic drug response algorithm Geisinger Case, Control 61 6,414
Geisinger Implementation Hearing Loss Geisinger Case, Control 336 6,479
KPWHRI RA Rheumatoid Arthritis (RA) KPWHRI Case, Control 74 6,737
KPWHRI RA revised 03jan2018 Rheumatoid Arthritis (RA) KPWHRI Case, Control 74 6,737
Harvard CRS CRS (Chronic Rhinosinusitis) Harvard Medical School Case, Control 180 7,120
Havard Hearing Loss Implementation Hearing Loss Case Only 603 7,315
Columbia Implementation Pneumonia- VUMC eMERGE v5.1 Columbia University Case, Control 156 8,015 96%
Geisinger Implementation Ovarian/Uterine Cancer (OvUtCa) Geisinger Case, Control 200 8,257
Geisinger eMERGE III Implementation CAAD (Carotid Artery Atherosclerosis Disease) Geisinger Case, Control 1,795 8,838
Harvard_NAFLD_Implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Case, Control 453 9,273
Vanderbilt Migraine Implementation Migraine Vanderbilt Case, Control 433 10,077
Geisinger Implementation Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) Geisinger Case, Control 548 10,331
Harvard CRC Implementation Colorectal Cancer (CRC) Harvard Medical School Case, Control 95 10,388
Harvard OvUtCa Implementation Ovarian/Uterine Cancer (OvUtCa) Case, Control 136 10,536
Harvard Pneumonia Pneumonia- VUMC eMERGE v5.1 Case, Control 138 11,637
Geisinger Implementation Rheumatoid Arthritis (RA) Geisinger Case, Control 351 12,402
VUMC Ov_Ut_Ca Implementation Ovarian/Uterine Cancer (OvUtCa) VUMC Case, Control 160 12,522
Emerge III Implementation Appendicitis Geisinger Case, Control 30 13,032
Implementation of NAFLD by VUMC Non-alcoholic fatty liver disease (NALFD) & Alcoholic Fatty Liver Disease (ALD) VUMC Case, Control 677 15,878
aggregate major depression case control file Depression Case, Control 9,852 69,136

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