Study: JGAS00000000032




TitleEffective screening strategy for deafness using a new-genetation sequencing platform: a consecutive analysis
AbstractThe diagnosis of the genetic etiology of deafness contributes to the clinical management of patients. We performed the following four genetic tests in three stages for 52 consecutive deafness subjects in one facility. We used the Invade assay and Sanger sequencing for the GJB2 gene or SLC26A4 gene in the first stage test, TaqMan genotyping assay in second stage test, and targeted exon sequencing using the massively parallel DNA sequencing in third stage test. Overall, we identified the genetic cause in 40% (21/52) of patients. The diagnostic rates of the first-, second- and third-stage genetic testing were 17%(9/52), 9%(4/43) and 21% (8/39), respectively. The combination approach using these genetic tests appears to be useful as a diagnostic tool for deafness patients. We recommended that genetic testing for the screening of common mutations in deafness genes using the Invader assay or TaqMan genotyping assay be performed as the initial evaluation. For the remaining undiagnosed cases, targeted exon sequencing using MPS is clinically and economically beneficial. This data set was MPS reads data (fastq) for 39 sensorineural hearing loss patients.
Study Type
Study TypeCase Set


PubMed ID26763877
Publication Statuspublished

Study Attribute

NBDC Numberhum0005
Registration date2015-07-27
Submitting organizationShinshu University School of Medicine
Accession Title Dataset type Data objects Policy
JGAD00000000032 Complihensive target re-sequencing of 39 sensorineural hearing loss patients. Amplicon sequencing 47 JGAP00000000001