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

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.

SUBMITTER: Atik T

PROVIDER: S-EPMC5503681 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature

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

Atik Tahir T Bademci Guney G Diaz-Horta Oscar O Blanton Susan H SH Tekin Mustafa M

Genetics research 20150331

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 qua ...[more]

PMID: 25825321

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