NBDC Research ID: hum0008.v1
SUMMARY
Aims: Research for genetic causes and mechanisms of Hirschsprung's diseases.
Methods: Perform whole exome sequencing using genome DNA from patients with Hirschsprung's diseases or their families and explore candidate genes.
Participants/Materials: Patients with Hirschsprung's diseases and their families
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000007 | NGS (Exome) | Controlled-access (Type I) | 2018/01/29 |
*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more
MOLECULAR DATA
| Participants/Materials |
Patients with Hirschsprung's diseases (5 cases) and their families (6 cases) （Total 4 sets about 11 cases） |
| Targets | Exome |
| Target Loci for Capture Methods | - |
| Platform | Illumina [HiSeq 2000] |
| Library Source | DNA extracted from peripheral blood cells |
| Cell Lines | - |
| Library Construction (kit name) | SureSelect Human All Exon 50 Mb Kit (Agilent) |
| Fragmentation Methods | Ultrasonic fragmentation (Covaris) |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000007 |
| Total Data Volume | 113 GB (88 files) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Hiroshi Matsufuji
Affiliation: Graduate School of Medical and Dental Sciences, Kagoshima University, Graduate School of Medicine
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| - | - | - |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease. | doi: 10.1007/s00383-017-4134-z | JGAD000007 |
| 2 |
USERS (Controlled-access Data)
| Principal Investigator: | Affiliation: | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|
