title: [Application of next generation sequencing in gene identification and genetic diagnosis of hereditary hearing loss].
abstract: More than 50% cases with hearing loss are caused by genetic defects. With the development of genomics technology, molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. The next generation sequencing has provided a new model originated from sequencing data to genetic disease study, and has made a revolutionary change in the strategy of gene identification for genetic diseases. Due to the application of next generation sequencing technology, gene identification of hearing loss has been accelerated in recent years, and moreover, the new technology and strategy were explored to clinical application. In this review, we briefly introduce the current situation of hereditary hearing loss research, and the application and perspective of next generation sequencing in this field.
authors.affiliation: Institute of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Huijun
authors.affiliation: Institute of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Yu
mesh_terms: D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans