Table 1 Comparison of top ranks of ClinVar variants as recovered from WES data; variants with MAF > 1% are filtered
From: DeepPVP: phenotype-based prioritization of causative variants using deep learning
| Â | Top hit | Top 10 hits | Total | ROC AUC | AUPR |
|---|---|---|---|---|---|
DeepPVP | 4060 (71.40%) | 4750 (83.54%) | 5686 | 0.94 | 0.66 |
DeepPVP-RF | 3520 (61.91%) | 4321 (75.99%) | 5686 | 0.95 | 0.55 |
PVP 1.1 | 3619 (63.65%) | 4076 (71.68%) | 5686 | 0.95 | 0.55 |
Exomiser | 2910 (51.18%) | 3608 (63.45%) | 5686 | 0.89 | 0.43 |
Exomiser-CADD | 2926 (51.46%) | 3621 (63.68%) | 5686 | 0.89 | 0.43 |
CADD | 1060 (18.64%) | 2429 (42.72%) | 5686 | 0.94 | 0.14 |
DANN | 170 (2.99%) | 1322 (23.25%) | 5686 | 0.90 | 0.03 |
GWAVA | 63 (1.11%) | 264 (4.64%) | 5686 | 0.66 | 0.01 |