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Table 1 Model performance of dbCNV and ClassifyCNV on ClinVar set

From: dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations

metrics

dbCNV

 

ClassifyCNV

 

loss

 

gain

 

loss

 

gain

 

P

LP

VUS

LB

B

 

P

LP

VUS

LB

B

 

P

LP

VUS

LB

B

 

P

LP

VUS

LB

B

 

Balance accuracy

0.69

0.59

0.60

0.50

0.74

 

0.90

0.82

0.89

0.85

0.90

 

0.53

0.45

0.67

0.50

0.17

 

0.50

0.50

0.52

0.50

0.59

 

Sensitivity

0.68

0.18

0.20

0

0.85

 

0.80

0.65

0.83

0.69

0.95

 

0.06

0.16

0.95

0

0.33

 

0.01

0.002

0.98

0

0.19

 

Specificity

0.69

0.99

0.99

1

0.64

 

0.99

0.99

0.95

0.99

0.83

 

0.99

0.74

0.38

1

0.01

 

0.99

0.99

0.05

1

0.99

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