Skip to main content

Table 2 Overview of data production

From: Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

Items

XLH01-I:2

XLH01-II:1

XLH01-II:2

Raw reads

52,834,894

65,462,716

60,937,646

Reads mapped to genome

50,880,007

63,035,145

58,693,151

Mapping rate (%)

96.30

96.29

96.31

Initial number of generated SNVs

178,276

207,524

187,354

Initial number of generated Indels

7,632

8,235

7,815

Mean depth of target region (X)

28.23

37.63

35.12

Coverage of target region (%)

96.76

96.71

96.69

Rate of nucleotide mismatch (%)

0.29

0.26

0.23

Fraction of target covered ≥4 X (%)

93.85

94.83

94.61

Fraction of target covered ≥10 X (%)

75.49

80.56

79.45

Fraction of target covered ≥20 X (%)

57.48

66.88

64.97

Duplication rate (%)

7.92

9.59

8.80

Gender test result

F

M

F

  1. SNV Single nucleotide variants and Indel insertions and deletions.