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Article

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery - 1 Jun 2013

Sivakumaran Theru A, Husami Ammar, Kissell Diane, Zhang Wenying, Keddache Mehdi, Black Angela P, Tinkle Brad T, Greinwald John H, Zhang Kejian

Abstract excerpt

OBJECTIVE: To evaluate the performance of a next-generation sequencing (NGS)-based targeted resequencing genetic test, OtoSeq, to identify the sequence variants in the genes causing sensorineural hearing loss (SNHL). STUDY DESIGN: Retrospective study. SETTING: Tertiary children's hospital. SUBJECTS AND METHODS: A total of 8 individuals presenting with prelingual hearing loss were used in this study. The coding...

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PMID: 23525850
DOI: 10.1177/0194599813482294

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