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Table 2 Number of CNV calls by subject and algorithm for the ‘WGS’ pool

From: Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

Subject

Total

Duplications

Deletions

MC

ED

WG

MC

ED

WG

MC

ED

WG

NCG_00012

90

106

143

61

73

121

29

33

22

NCG_00237

82

101

165

50

64

129

32

37

36

NCG_00525

68

74

151

30

33

110

38

41

41

NCG_00593

45

58

142

22

28

81

23

30

61

NCG_00676

66

78

112

38

46

92

28

32

20

NCG_00790

5156

2204

121

19

37

92

5137

2167

29

NCG_00819

68

76

134

30

41

100

38

35

34

NCG_00840

78

92

157

44

52

115

34

40

42

NCG_00851

1151

859

141

28

51

102

1123

808

39

NCG_00857

59

75

119

10

15

81

49

60

38

NCG_00976

46

58

114

25

37

93

21

21

21

NCG_01023

59

95

143

32

60

113

27

35

30

NCG_01043

73

94

128

40

64

105

33

30

23

NCG_01076

36

57

105

7

22

78

29

35

27

NCG_01077

135

157

230

103

121

184

32

36

46

NCG_01117

95

101

154

72

78

129

23

23

25

  1. ‘MC’ indicates the mcCNV algorithm; ‘ED’ indicates the ExomeDepth algorithm; ‘WG’ indicates the overlap of ERDS/cnvpytor calls from matched whole-genome sequencing. Exons with any overlap of the repetitive and low-complexity regions, as defined in the Trost et al. manuscript, omitted from analysis