Table 1 Summary of whole exome sequencing and variant analysis
From: Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Summary of whole exome sequencing data | |
|---|---|
Subject | III:2 |
Sequencing, read alignment and coverage | |
 Uniquely mapped reads with MAPQ > = 30 [N] | 558,548,129 |
 Fraction of targets covered > = 5x [%] | 98.35 |
 Fraction of targets covered > = 20x [%] | 93.45 |
 Overall mean sequencing depth [x] | 162.22 |
Variant calling | |
 Total identified variants [N] | 46,457 |
 Known variants with MAF < 0.01 (dbSNP,ESP,ExAC) [N] | 1348 |
 Novel variants [N] | 482 |
 Heterozygous/non-reference homozygous ratio | 1.64 |
 Transition/transversion ratio | 2.65 |