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 | |
| State | Published - Mar 31 2015 |
Fingerprint
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 journal › Review article
}
TY - JOUR
T1 - Whole-exome sequencing and its impact in hereditary hearing loss
AU - Atik, Tahir
AU - Bademci, Guney
AU - Diaz-Horta, Oscar
AU - Blanton, Susan H
AU - Tekin, Mustafa
PY - 2015/3/31
Y1 - 2015/3/31
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=84943147833&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84943147833&partnerID=8YFLogxK
U2 - 10.1017/S001667231500004X
DO - 10.1017/S001667231500004X
M3 - Review article
C2 - 25825321
AN - SCOPUS:84943147833
VL - 97
SP - e4
JO - Genetical Research
JF - Genetical Research
SN - 0016-6723
ER -