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Table 2 Confusion matrices of the classification performance of the predictors on 200 recent variants (pathogenic and neutral) deposited in ClinVar

From: DTreePred: an online viewer based on machine learning for pathogenicity prediction of genomic variants

 

Expected class

Pathogenic

Neutral

DTreePred (Precision* and Recall**: 97.06% and 99.00%)

Predicted class

Pathogenic

99

3

Neutral

1

97

NDamage (Precision* and Recall**: 79.09% and 87.00%)

Predicted class

Pathogenic

87

23

Neutral

13

77

ML (Precision* and Recall**: 90.48% and 95.00%)

Predicted class

Pathogenic

95

10

Neutral

5

90

  1. *Precision: True positive (pathogenic)/(true positive (pathogenic) + false positive (pathogenic))
  2. **Recall: True positive (pathogenic)/(true positive (pathogenic) + false negative (neutral))