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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0008-v1Release info

Latest

Research title

Research for genetic causes and mechanisms of Hirschsprung's

Research overview

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
URL: N/A

Datasets

Cart	Dataset ID	Type of data	Analysis method	Access criteria	Date published
	JGAD000007	NGS (Exome)	WES	Controlled-access (Type I)	2020-09-28

Data provider

Principal investigator: Hiroshi Matsufuji
Affiliation: Graduate School of Medical and Dental Sciences, Kagoshima University, Graduate School of Medicine

Research projects

No research projects.

Grants

No grants.

Related publications

Title	DOI	Dataset ID
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 (opens in a new tab)	JGAD000007

Controlled access users

No use of the controlled access data has been recorded.