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Table 1 List of tools providing good SV calling results for both the simulated and NA12878 real datasets

From: Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

SV type

Tools

Simulated data

Real data

nF*1

Precision

Recall

Precision

Recall

DEL

GRIDSS

98.9 (5)

86.6 (2)

87.6 (7)

28.9 (2)

3.57 (1)

Lumpy

99.1 (4)

81.4 (6)

87.1 (8)

26.1 (4)

3.41 (2)

SVseq2

96.2 (11)

86.1 (3)

75.7 (17)

24.9 (5)

3.28 (3)

SoftSV

96.8 (10)

83.6 (4)

80.2 (13)

23.2 (8)

3.25 (7)

Manta

95.9 (12)

83.1 (5)

74.2 (20)

24.3 (6)

3.21 (5)

MATCHCLIP

99.4 (2)

71.7 (10)

91.6 (4)

20.9 (11)

3.12 (6)

inGAP-sv

91.1 (18)

78.6 (7)

78.3 (14)

22.5 (8)

3.10 (7)

DUP

Wham

96.9 (4)

81.7 (4)

57.1 (4)

10.2 (5)

3.92 (1)

SoftSV

84.2 (14)

67.8 (13)

47.3 (6)

14.3 (3)

3.91 (2)

MATCHCLIP

87.6 (11)

77.5 (8)

58.0 (3)

9.9 (6)

3.79 (3)

GRIDSS

91.1 (9)

77.9 (7)

58.4 (2)

9.6 (7)

3.78 (4)

Manta

99.0 (1)

83.2 (1)

40.4 (9)

6.5 (11)

3.35 (5)

SvABA

82.6 (15)

69.6 (11)

42.7 (8)

7.2 (9)

3.02 (6)

INS [Unspecified]

pbsv

89.7 (3)

38.2 (5)

72.7 (8)

27.5 (2)

6.68 (1)

inGAP-sv

99.7 (1)

58.5 (2)

85.5 (2)

11.8 (3)

6.27 (2)

Sniffles

74.8 (5)

52.5 (3)

65.9 (10)

9.0 (5)

5.08 (3)

SVseq2

70.4 (8)

64.2 (1)

38.5 (19)

7.1 (9)

4.87 (4)

INS [MEI]

MELT

99.7 (3)

68.9 (3)

88.9 (1)

85.6 *2 (1)

3.21 (1)

Mobster

100 (1)

67.1 (4)

88.3 (2)

71.9 *2 (2)

3.04 (2)

INV

DELLY

94.7 (8)

81.8 (4)

38.9 (4)

15.6 (2)

3.07 (1)

TIDDIT

89.2 (14)

77.9 (8)

49.1 (1)

11.7 (5)

2.89 (2)

1–2-3-SV

70.7 (19)

81.2 (5)

31.8 (9)

14.8 (3)

2.67 (3)

GRIDSS

96.6 (6)

84.7 (3)

34.2 (8)

10.4 (7)

2.67 (4)

  1. *1Sum of normalized F-measures of the simulated and the real data. Normalized F-measure = F-measure/the mean F-measure for the corresponding category
  2. *2Provisional recall value: the number of true positives was calculated by dividing by the provisional number of reference MEIs (1350), which was estimated using the data from the 1000 Genome project
  3. Ranks of tools for each result (precision, recall, or F-measure) are indicated within parentheses