Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

@inproceedings{Yang2013GeneticES,
  title={Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing},
  author={Tao H. Yang and Xiaoming Wei and Yongchuan Chai and Lei Li and Hao Wu},
  booktitle={Orphanet journal of rare diseases},
  year={2013}
}
BACKGROUND Although over 60 non-syndromic deafness genes have been identified to date, the etiologic contribution of most deafness genes remained elusive. In this study, we addressed this issue by targeted next-generation sequencing of a large cohort of non-syndromic deaf probands. METHODS Probands with mutations in commonly screened deafness genes GJB2, SLC26A4 and MT-RNR1 were pre-excluded by Sanger sequencing. The remaining 125 deaf probands proceeded through targeted exon capturing of 79… CONTINUE READING