Whole-exome sequencing and its impact in hereditary hearing loss

Tahir Atik, Guney Bademci, Oscar Diaz-Horta, Susan H. Blanton, Mustafa Tekin

Research output: Contribution to journalReview articlepeer-review

29 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)e4
JournalGenetics research
StatePublished - Mar 31 2015

ASJC Scopus subject areas

  • Genetics


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