Whole-exome sequencing and its impact in hereditary hearing loss
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Cambridge Univ Press
Erişim Hakkı
info:eu-repo/semantics/openAccess
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.
Açıklama
Anahtar Kelimeler
Kaynak
Genetics Research
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
97
