Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
We apologize for any inconvenience this may cause and appreciate your understanding.

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.

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

hum0038-v1Release info

Latest

Research title

Genetic analysis in an inherited cardiac arrhythmia

Research overview

Aims: The purpose of this study is to identify a causative gene in an inherited cardiac arrhythmia
Methods: Exome sequence analysis (HiSeq 2000)
Participants/materials: Patients with an inherited cardiac arrhythmia
URL: N/A

Datasets

Cart	Dataset ID	Type of data	Analysis method	Access criteria	Date published
	JGAD000041	NGS (Exome)	WES	Controlled-access (Type I)	2020-09-28

Data provider

Principal investigator: Naomasa Makita
Affiliation: Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences

Research projects

No research projects.

Grants

Name	Title	Project number
Grant-in-Aid for Scientific Research on Innovative Areas	Molecular basis of cardiac channelopathies	22136007

Related publications

Title	DOI	Dataset ID
Successful control of life-threatening polymorphic ventricular tachycardia by radiofrequency catheter ablation in an infant.	https://doi.org/10.1007/s00380-013-0390-6 (opens in a new tab)	JGAD000041
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.	https://doi.org/10.1038/ng.2712 (opens in a new tab)	JGAD000041

Controlled access users

Principal investigator	Affiliation	Country/Region	Research title	Period of data use	Dataset ID
Satoshi Yuhara	SRL inc./ H.U. Group Research Institute G.K.	Japan	Validation of Rare Disease Clinical Reporting System	2024-07-01 – 2026-07-01	JGAD000041