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Table 2 Whole-exome sequencing of the three siblings

From: Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

Parameter

II:1

II:2

II:3

Total reads

29,611,231

29,893,511

33,929,246

Number of mapped reads

29,123,517

29,600,865

33,598,112

Percent reads on target

88.85%

89.52%

91.11%

Uniformity of base coverage

94.32%

95.08%

94.18%

Mean Read Length

176 bp

181 bp

181 bp

Mean read depth

79.68

82.84

95.77

Target base coverage at 20×

91.96%

93.78%

93.78%

Total number of variants

37918

37729

38169