Table 5.
Evaluating the prediction performance using the training and validation datasets
| Training Dataset b |
Validation Dataset c |
|||
|---|---|---|---|---|
| Prediction in pedigrees | All individuals a | Non-probands | All individualsa | Non-probands |
| O | 716 | 54 | 237 | 25 |
| E | 719.260 | 57.260 | 230.148 | 18.148 |
| O/E (95% CI) | 0.995 (0.925 to 1.071) | 0.943 (0.722 to 1.231) | 1.030 (0.907 to 1.170) | 1.378 (0.931 to 2.039) |
| P value | 0.903 | 0.667 | 0.652 | 0.108 |
|
| ||||
| AUC | 0.981 | 0.753 | 0.981 | 0.803 |
|
| ||||
| Prediction assuming individuals are unrelated |
All individualsa | Non-probands | All individualsa | Non-probands |
|
| ||||
| O | 716 | 54 | 237 | 25 |
| E | 694.404 | 32.404 | 221.752 | 9.752 |
| O/E(95% CI) | 1.031 (0.958 to 1.109) | 1.666 (1.276 to 2.176) | 1.069 (0.941 to 1.214) | 2.564 (1.732 to 3.794) |
| P value | 0.412 | 1.48×10−4 | 0.306 | 1.05×10−6 |
|
| ||||
| AUC | 0.980 | 0.741 | 0.981 | 0.806 |
Prediction for the probands using formula (5)
the training dataset comprises 787 singly ascertained BE pedigrees
the validation dataset comprises 643 BE pedigrees