Whole-exome sequencing and its impact in hereditary hearing loss

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

doi:10.1017/S001667231500004X

Whole-exome sequencing and its impact in hereditary hearing loss

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Review article › peer-review

28 Scopus citations

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 language	English (US)
Pages (from-to)	e4
Journal	Genetics research
Volume	97
DOIs	https://doi.org/10.1017/S001667231500004X
State	Published - Mar 31 2015

ASJC Scopus subject areas

Genetics

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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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AU - Atik, Tahir

AU - Bademci, Guney

AU - Diaz-Horta, Oscar

AU - Blanton, Susan H.

AU - Tekin, Mustafa

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AB - 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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Whole-exome sequencing and its impact in hereditary hearing loss

Abstract

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