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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

  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