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Review
. 2015 Mar 31:97:e4.
doi: 10.1017/S001667231500004X.

Whole-exome sequencing and its impact in hereditary hearing loss

Tahir Atik  1 , Guney Bademci  1 , Oscar Diaz-Horta  1 , Susan H Blanton  1 , Mustafa Tekin  1
Affiliations
Review

Whole-exome sequencing and its impact in hereditary hearing loss

Tahir Atik et al. Genet Res (Camb). .

Abstract

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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Figures

Fig. 1.
Fig. 1.
Typical workflow for gene discovery using whole-exome sequencing. WES, whole-exome sequencing.
Fig. 2.
Fig. 2.
The impact of next-generation sequencing on gene discovery for nonsyndromic deafness. NGS, next-generation sequencing.
See this image and copyright information in PMC

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