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 article

26 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)e4
JournalGenetics research
Volume97
DOIs
StatePublished - Mar 31 2015

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Exome
Hearing Loss
Deafness
Technology
Genes
Hearing
Mutation
DNA
Research
Nonsyndromic Deafness

ASJC Scopus subject areas

  • Genetics

Cite this

Whole-exome sequencing and its impact in hereditary hearing loss. / Atik, Tahir; Bademci, Guney; Diaz-Horta, Oscar; Blanton, Susan H; Tekin, Mustafa.

In: Genetics research, Vol. 97, 31.03.2015, p. e4.

Research output: Contribution to journalReview article

Atik, Tahir ; Bademci, Guney ; Diaz-Horta, Oscar ; Blanton, Susan H ; Tekin, Mustafa. / Whole-exome sequencing and its impact in hereditary hearing loss. In: Genetics research. 2015 ; Vol. 97. pp. e4.
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