Table 2.
Phenotyping performance
| AUROC | Accuracy | Recall | PPV | NPV | |
|---|---|---|---|---|---|
| T2DM | |||||
| PheMap | 0.980 | 0.976 | 0.917 | 0.999 | 0.969 |
| XPRESS | 0.702 | 0.791 | 0.415 | 0.721 | 0.804 |
| ≥2 phecodes | – | 0.923 | 0.750 | 1.000 | 0.750 |
| Dementia | |||||
| PheMap | 0.867 | 0.983 | 0.552 | 1.000 | 0.983 |
| XPRESS | 0.646 | 0.568 | 0.648 | 0.054 | 0.977 |
| ≥2 phecodes | – | 0.975 | 0.337 | 1.000 | 0.975 |
| Hypothyroidism | |||||
| PheMap | 0.999 | 0.999 | 0.990 | 0.991 | 0.999 |
| XPRESS | 0.649 | 0.812 | 0.320 | 0.145 | 0.941 |
| ≥2 phecodes | – | 0.993 | 0.905 | 0.995 | 0.993 |
Note: Data are of PheMap compared to other high-throughput approaches using eMERGE case-control definitions as reference standards. AUROC: area under receiver operating characteristics; eMERGE: Electronic Medical Records and Genomics; PPV: positive predictive value; NPV: negative predictive value; T2DM: type 2 diabetes mellitus.