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Table 1 Filtering process of whole exome sequencing analysis in this study

From: Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

Patient (30–22)

 

Total sequence reads

93,205,604

Matched Reads (percentage of reads)

91,298,272 (97.95%)

Total number of variants detected

187,202

Variants which are not common dbSNP138 (MAF > 1%) (A)

37,206

Variants which are not present in 32 control of healthy individuals

9487

Variants which are nonsynonymous or located in splice junction (B)

622

% B / A

1.67%

Located within splice site

31

Deletion/Insertion

33

Stop codon gained / Stop codon lost

5

Missense

553

SNPs after inspection of MAF < 0.05% & amino acid conservation

168

Located within splice site

7

Deletion/Insertion

3

Stop codon gained / Stop codon lost

5

Missense

153

Variant in 129 genes known to deafness genes

4

Sanger confirmation / Segregation

2

Causative mutation

WFS1