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Table 1 Whole exome sequencing detail of coverage and number of reads

From: A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

Type

Value

Type

Value

Number of mapped reads

41,674,840

Percent reads on target

95.70%

Percent assigned reads

95.70%

Average reads per amplicon

136

Uniformity of coverage

86.30%

Regions with at least 100 reads

53.69%

Regions with at least 1 read

99.54%

Regions with at least 500 reads

0.70%

Regions with at least 20 reads

90.02%

Regions reading end-to-end

35.97%

Regions with no strand bias

85.64%

Total aligned base reads

7,342,243,527

Bases in target regions

57,742,646

Total base reads on target

6,979,820,754

Percent base reads on target

0.95

Uniformity of base coverage

0.85

Average base coverage depth

121

Target bases with no strand bias

78.31%

Target base coverage at 1×

99.18%

Target base coverage at 100×

47.95%

Target base coverage at 20×

87.91%

Target base coverage at 500×

0.62%

Percent end-to-end reads

58.98%

mapping rate

99.10%

AQ17

92.21%

AQ20

87.51%