We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.
DBCLS will be closed for summer break from August 12 (Wed), 2026 - August 17 (Mon), 2026. After August 18 (Tue), we will respond to requests or questions which are received during this period. We sincerely apologize for any inconvenience this may cause and thank you for your kind understanding and cooperation.
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.
Targets: Patients with Hirschsprung's diseases and their families
Dataset ID | Access type | Type of data | Release date | |
|---|---|---|---|---|
| JGAD000007 | Controlled-access (Type I) | NGS (Exome) | 2020-09-28 | |
Name | URL |
|---|---|
| No data | |
Name | Title | Project number |
|---|---|---|
| No data | ||
Title | DOI | Datasets |
|---|---|---|
| Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease. | https://doi.org/10.1007/s00383-017-4134-z | |
Principal Investigator | Affiliation | Country/Region | Research title | Period of data use | Data in use (Dataset ID) |
|---|---|---|---|---|---|
| No data | |||||