Whole-exome sequencing and its impact in hereditary hearing loss
Makaleler > Tam Makale · 2015
Yazarlar: Tahir ATİK, G BADEMCI, O DIAZ-HORTA, SH BLANTON, M TEKIN
Genetics Research, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2015, cilt 97, ss e4-e4
DOI: 10.1017/s001667231500004x
Özet
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.