Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

ABSTRACT: Despite the advent of next-generation sequencing, diagnosing genetic disorders remains challenging. We perform comprehensive genomic profiling of 394 families (752 individuals) with sensorineural hearing loss (SNHL) using a systematic multi-tiered approach, from single-gene analysis to whole-genome sequencing (WGS), complemented by functional assays and bioinformatic analysis. Our strategy achieves a cumulative diagnostic yield of 55.6% (219 families), with automated WGS analysis identifying pathogenic variants in an additional 20 families, primarily structural variants. Comparative analysis reveals higher frequencies of single pathogenic alleles in recessive genes within our cohort compared to controls. Subsequent analysis, including in silico predictions and in vitro validation, identifi

SUBMITTER: Lee SY 

PROVIDER: S-EPMC12281402 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature