Fig. 2: Comprehensive WGS analyses exhibited diagnostic rates comparable to those with WGS for genetic hearing loss.

a A pie chart representing the distribution of patients subjected to genetic screening in a cohort study. Before next-generation sequencing, patients were prescreened for variants in GJB2 and SLC26A4, the most common genes responsible for hearing loss among the Korean population. b, c The diagnostic rate and gene composition of patients screened by WES (b) and WGS (c). Red indicates genes showing an autosomal recessive inheritance pattern, and yellow indicates genes showing an autosomal dominant inheritance pattern. Proportions of diagnosed patients corresponding to clinical manifestations, including vertigo, age of onset, mode of inheritance, syndromic feature and severity of hearing loss, are represented as bar plots; blue, diagnosed; light gray, undiagnosed.