Table 3.
Positive predictive value for phenotype case and control algorithms, and for phenotype eligibility algorithms across Electronic Medical Records and Genomics sites
| Phenotype | Number validated | Positive predictive value | ||||
|---|---|---|---|---|---|---|
| Group Health (%) | Marshfield Clinic (%) | Mayo Clinic (%) | Northwestern University (%) | Vanderbilt University (%) | ||
| Validated for case/control status and eligibility | ||||||
| Cataract | ||||||
| Case* | 3234 | 97.7 | 96.0 | |||
| Control* | 3184 | 97.7 | ||||
| Dementia | ||||||
| Case* | 3778 | 73.0 | 89.7 | 84.0 | ||
| Control | 505 | 96.7 | ||||
| Type 2 diabetes | ||||||
| Case | 300 | 99.0 | 98.2 | 100 | ||
| Control | 143 | 98.0 | 100 | 100 | ||
| Diabetic retinopathy | ||||||
| Case | 229 | 80.0 | 67.6 | |||
| Control | 80 | 98.0 | 100 | |||
| Resistant hypertension | ||||||
| Case | 354 | 90.0 | 100 | 84.4 | ||
| Control | 144 | 91.0 | 100 | 93.8 | 84.0 | |
| Peripheral arterial disease | ||||||
| Case* | 11504 | 87.5 | 90.7 | 95.0 | ||
| Control | 100 | 100 | ||||
| Chronic autoimmune hypothyroidism | ||||||
| Case | 389 | 92.0 | 91.3 | 82.0 | 98.1 | 98.0 |
| Control | 290 | 100 | 100 | 96.0 | 100 | 100 |
| Validated for eligibility | ||||||
| Low level of high density lipoprotein | 440 | 81.6 | ||||
| Lipids* | 1054 | 78.8 | 92.3 | |||
| Red blood cell indices | 391 | 96.4 | 98.0 | 98.0 | ||
| White blood cell indices | 365 | 89.6 | 85.0 | |||
| QRS duration | 245 | 100 | 96.9 | 97.0 | ||
| Height | 579 | 86.9 | 95.1 | |||
Blank cells if did not participate in validation of that phenotype.
*Number large due to pre-existing study with validation.