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Table 3 Overview of the read coverage for the genome (hg38), hearing loss genes in the Deafness Variation Database including introns (224 genes with 23,441,668 bp) and PTPRQ including introns (278,096 bp)

From: Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing

Proband

Ø read depth

Bp covered >= 10 reads

Bp in HL genes covered > 10 reads

Bp in PTPRQ covered >10 reads

Family 1 Index (II-3)

40.76

91.57 %

99.76 %

99.73 %

Family 1 Brother (II-2)

41.24

92.08 %

99.75 %

99.70 %

Family 1 Mother (I-3)

40.25

91.53 %

99.77 %

99.77 %

Family 2 Index (II-1)

19.11

90.00 %

98.55 %

98.23 %