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Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.

Expert review of molecular diagnostics - 1 Sept 2024

Tsai Cheng-Yu, Hsu Jacob Shu-Jui, Chen Pei-Lung, Wu Chen-Chi

Abstract excerpt

INTRODUCTION: Sensorineural hearing impairment (SNHI), a common childhood disorder with heterogeneous genetic causes, can lead to delayed language development and psychosocial problems. Next-generation sequencing (NGS) offers high-throughput screening and high-sensitivity detection of genetic etiologies of SNHI, enabling clinicians to make informed medical decisions, provide tailored treatments, and improve...

Topics

Humans
High-Throughput Nucleotide Sequencing
Genetic Testing
Neonatal Screening
Hearing Loss, Sensorineural
Genetic Predisposition to Disease
Infant, Newborn
Disease Management
Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39194060
DOI: 10.1080/14737159.2024.2396866

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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