NBDC Research ID: hum0005.v1

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SUMMARY

Aims: To identify the causative gene mutation of hearing impairment including non-syndromic hearing loss, syndromic hearing loss, and inner, middle, outer ear malformation.

Methods: Massively Parallel DNA Sequencing was performed with an Ion Torrent Personal Genome Machine (PGM) system using the Ion PGM 200 Sequencing Kit and Ion 318 Chip (Life Technologies).

Participants/Materials: Usher Syndrome: 17 patients

 

Data Set IDType of DataCriteriaRelease Date
DRA001273 NGS (Target Capture: Nine genes) Un-restricted Access 2014/01/27

*Release Note

 

MOLECULAR DATA

DRA001273
Participants/Materials 17 usher syndrome patients
Targets Target Capture
Target Loci for Capture Methods

Nine genes

(MYO7A, USH1C, CDH23, PCDH15, SANS[USH1G],

USH2A, GPR98[USH2C], DFNB31[USH2D], CLRN[USH3A])
Platform Life technologies [Ion PGM]
Library Source gDNA extracted from peripheral blood cells
Cell Lines -
Library Construction (kit name) Ion AmpliSeq Custom kit
Fragmentation Methods -
Spot Type Single-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 200 bp
DDBJ Sequence Read Archive ID DRA001273
Total Data Volume 726.6 MB
Comments (Policies) NBDC policy

When the research results including the data which were downloaded from NHA/DRA, are published or presented somewhere, the data user must refer the papers which are related to the data, or include in the acknowledgment. Learn more

 

 

DATA PROVIDER

Principal Investigator: Shin-ichi Usami

Affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine

URL： -

Funds / Grants (Research Project Number):

NameTitleProject Number
Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases Research and Survey for Usher syndrome H22-Nanchi-Ippan-058
Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases Research and Survey for Inherited Hearing Loss and Inner-, Middle- and Outer Ear Malfolmation H24-Nanchi(Nan)-Ippan-032

 

PUBLICATIONS

TitleDOIData Set ID
1 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. doi: 10.1371/journal.pone.0090688 DRA001273
2