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Table 6 Result of different tools with different threshold values (used to determine when a called inversion matches benchmark)

From: InvBFM: finding genomic inversions from high-throughput sequence data based on feature mining

Thre-shold

Tool

No. Calls

TP

TP0

FP

FN

Precision

Recall

F1-score

ISPE

Delly

1142

183

150

959

88

16.02%

63.03%

25.55%

Lumpy

66

51

51

15

187

77.27%

21.42%

33.55%

LumpyEP

62

47

47

15

191

75.81%

19.75%

31.33%

Pindel

649

84

79

565

159

12.94%

33.19%

18.62%

InvBFM

\( \frac{\mathbf{1379}}{\mathbf{1919}} \)

\( \frac{\mathbf{359}}{\mathbf{365}} \)

\( \frac{\mathbf{163}}{\mathbf{166}} \)

1020

75

26.03%

68.49%

37.73%

ISPE *2

Delly

1142

244

164

898

74

21.37%

68.91%

32.62%

Lumpy

66

65

65

1

173

98.48%

27.31%

42.76%

LumpyEP

62

60

60

2

178

96.77%

25.21%

40.00%

Pindel

649

99

82

550

156

15.25%

34.45%

21.14%

InvBFM

\( \frac{\mathbf{1379}}{\mathbf{1919}} \)

\( \frac{\mathbf{462}}{\mathbf{468}} \)

\( \frac{\mathbf{167}}{\mathbf{172}} \)

917

71

33.50%

70.17%

45.35%

ISPE *3

Delly

1142

258

165

884

73

22.59%

69.33%

34.08%

Lumpy

66

65

65

1

173

98.48%

27.31%

42.76%

LumpyEP

62

61

61

1

177

98.39%

25.63%

40.67%

Pindel

649

101

82

548

156

15.56%

34.45%

21.44%

InvBFM

\( \frac{\mathbf{1379}}{\mathbf{1919}} \)

\( \frac{\mathbf{479}}{\mathbf{485}} \)

\( \frac{\mathbf{170}}{\mathbf{173}} \)

900

68

34.73%

71.43%

46.74%

  1. No.Calls: detected inversion count. TP true positive, TP0 remove repeats of TP, FP false positive, FN false negative. The kernel of SVM is linear, with the penalty factor of 0.1 and the gamma of 20