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Table 5 Comparison of four variant callers on whole-exome sequencing data

From: A study on fast calling variants from next-generation sequencing data using decision tree

  

Whole exome

  

Fuwa

Platypus

GATK-UG

GATK-HC

SAMtools

SNPs

22,119

21,260

24,777

21,774

20,938

Ti/tv

 

2.65

2.97

2.36

2.59

2.7

Axiom

GT concordance (%)

96.82

92.83

90.83

95.65

97.15

Recall (%)

91.09

86.55

92.37

90.34

89.8

Mono rate (%)

0.1

0.28

0.37

0.16

0.08

Fosmid

Recall (%)

NA

NA

NA

NA

NA

GIAB

Recall (%)

87.59

77.39

87.02

86.37

86.78

Precision (%)

98.44

99.88

93.06

96.28

97.61

Indels

478

773

405

440

680

In-frame fraction

 

0.39

0.28

0.35

0.44

0.35

Fosmid

Recall (%)

NA

NA

NA

NA

NA

GIAB

Recall (%)

64.41

51.42

55.35

64.47

52.37

Precision (%)

92.79

68.87

91.71

96.4

78.24

Runtime (real time, min)

13.5

9.8

93.6

170.5

85.3

  1. NA not available. Fosmid call set failed to act as a benchmark on exome data analysis results because it rarely covers sites of exome regions