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Article

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

1 Jul 2025

Abstract excerpt

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...

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Share to Ear Surgery and Otitis Media
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PMID: 40592345
DOI: 10.1016/j.xcrm.2025.102206

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