Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants

Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants

Abstract Hearing loss is a clinically and genetically heterogeneous sensorineural disease that affects approximately 1 out of 1000 newborns. For the molecular diagnosis of genetic hearing loss, target panel or whole-exome sequencing (WES) have been widely used due to their cost-effectiveness and eff...

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Bibliographic Details
Main Authors: Jung Ah Kim, Seung Hyun Jang, Sun Yung Joo, Se Jin Kim, Jae Young Choi, Jinsei Jung, Heon Yung Gee
Format: Article
Language:English
Published: Nature Publishing Group 2025-04-01
Series:Experimental and Molecular Medicine
Online Access:https://doi.org/10.1038/s12276-025-01428-x
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