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. Author manuscript; available in PMC: 2013 Jun 23.
Published in final edited form as: Sci Transl Med. 2011 Apr 20;3(79):79re1. doi: 10.1126/scitranslmed.3001807

Table 4.

Performance of algorithms to identify cases and controls from EMRs for five primary phenotypes.

GHC1 MCRF2 Mayo3 NU4 VU5
Primary Phenotype Dementia Cataract Peripheral Arterial Disease Type 2 diabetes Cardiac conduction (Quantitative Trait)
EMR data sources to define phenotype Diagnoses, Medications Diagnoses, Procedures, Medications Procedure Reports Diagnoses, Laboratory Tests, Medications Diagnoses, Laboratory Tests, Medications, ECG Results
Method to validate EMR phenotype Physician Review* Trained Chart Reviewers Compared to Clinical Gold Standard Physician Review Physician Review
Number of Cases/Controls 747/2043 2642/1322 1679/1657 756/777 2950
Biospecimen # 2790 19771 3336 8161 81952
% of total biospecimen pool 26.8% 13.4% 50.3% 9.3% 3.6%
PPV (case/control) 73% 98%/98% 94%/99% 98%/100% 97%
*

Review team included two physicians, a psychometrician, a neuropsychologist, and a study nurse

1

Group Health Cooperative

2

Marshfield Clinic Research Foundation

3

Mayo Clinic

4

Northwestern University

5

Vanderbilt University