Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary deafness. Current research estimates that 1% of all human genes have a function in hearing. To date, mutations in over 80 genes have been reported to cause nonsyndromic hearing loss (NSHL). Strikingly, more than a quarter of all known genes related to NSHL were discovered in the past 5 years via NGS technologies. In this article, we review recent developments in the usage of NGS for hereditary deafness, with an emphasis on whole-exome sequencing.

中文翻译：

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全外显子测序及其对遗传性听力损失的影响。

下一代测序（NGS）技术在基因革命中发挥了核心作用。这些技术，尤其是全外显子组测序，已成为遗传学家鉴定孟德尔疾病（包括遗传性耳聋）中致病性DNA变异的主要工具。当前的研究估计所有人类基因中有1％具有听力功能。迄今为止，已经报道了80多个基因的突变会导致非综合征性听力损失（NSHL）。令人惊讶的是，在过去5年中，通过NGS技术发现了与NSHL相关的所有已知基因的四分之一以上。在本文中，我们回顾了NGS用于遗传性耳聋的最新进展，重点是全外显子组测序。