Table 1 SV discovery accuracy on simulated datasets

From: Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak

 

DeBreak

Sniffles

pbsv

cuteSV

Type

Rec

Pre

F1

Rec

Pre

F1

Rec

Pre

F1

Rec

Pre

F1

PacBio

DEL

99.59

99.50

99.54

95.50

99.83

97.62

97.21

99.58

98.38

96.94

99.82

98.36

INS

98.51

99.65

99.08

92.35

99.52

95.80

95.38

96.22

95.80

94.58

94.71

94.64

DUP

98.27

97.04

97.65

90.80

98.63

94.55

44.53

97.11

60.97

44.13

99.03

61.05

INV

99.10

99.40

99.25

94.57

97.22

95.88

82.67

99.92

90.47

96.53

50.00

65.88

TRA

99.17

99.67

99.41

97.67

95.60

96.62

97.67

25.04

39.86

99.00

50.30

66.70

Total

99.02

99.45

99.23

93.85

99.47

96.58

93.36

95.34

94.34

93.50

92.39

92.94

Nanopore

DEL

98.08

98.82

98.45

94.83

98.72

96.74

98.65

98.55

98.60

97.87

98.27

98.07

INS

98.17

99.68

98.92

92.70

99.73

96.09

97.05

95.92

96.48

96.04

94.01

95.01

DUP

97.00

93.60

95.27

91.97

98.37

95.06

46.03

87.37

60.23

39.67

99.50

56.72

INV

91.63

98.71

95.04

93.67

95.18

94.41

88.20

99.96

93.71

97.37

50.00

66.07

TRA

92.83

99.83

96.17

97.17

91.38

94.18

97.83

25.26

40.15

99.17

50.17

66.63

Total

97.73

98.96

98.35

93.71

98.91

96.24

95.08

94.60

94.84

94.41

91.46

92.91

  1. The unit for recall, precision, and F1 score is %. The highest recall, precision, and F1 score among four tested SV callers are marked in bold.
  2. Rec Recall, Pre Precision, F1 F1 score.