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 ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| DRA001273 | NGS (Target Capture: Nine genes) | Un-restricted Access | 2014/01/27 |
MOLECULAR DATA
| 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):
| Name | Title | Project 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
| Title | DOI | Data Set ID | |
|---|---|---|---|
| 1 | Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. | doi: 10.1371/journal.pone.0090688 | DRA001273 |
| 2 |
