期刊
GENETICS RESEARCH
卷 97, 期 -, 页码 -出版社
HINDAWI LTD
DOI: 10.1017/S001667231500004X
关键词
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资金
- National Institutes of Health [R01DC009645]
- Scientific and Technological Research Council of Turkey (TUBITAK) [1059B191401904]
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.
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