Article
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.
International journal of pediatric otorhinolaryngology - 1 Oct 2022
Liu Chang, Huang Yanlin, Zhang Yan, Ding Hongke, Yu Lihua, Wang Anshi, Wang Yunan, Zeng Yukun, Liu Ling, Liu Yuan, Qi Yiming, Li Fake, Wu Jing, Du Li, Mai Fei, Zhang Qi, Wang Xingwang, Yin Aihua
Abstract excerpt
BACKGROUND: Hearing loss (HL) is a prevalent sensorineural disorder, and is among the most etiologically heterogeneous disorders. With the advent of next-generation sequencing (NGS) technologies, hundreds of candidate genes can be analyzed simultaneously in a cost-effective manner. METHODS: Ninety-four patients from 87 families diagnosed with non-syndromic or syndromic HL were enrolled. A custom-designed HL panel...
Topics
- Cohort Studies
- Deafness
- Hearing Loss
- Hearing Loss, Sensorineural
- High-Throughput Nucleotide Sequencing
- Humans
- Mutation
- Pedigree
- Exome Sequencing