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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

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000041NGS (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

NameTitleProject number
Grant-in-Aid for Scientific Research on Innovative Areas
Molecular basis of cardiac channelopathies
  • 22136007

Related publications

TitleDOIDataset 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)
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)

Controlled access users

Principal investigatorAffiliationCountry/RegionResearch titlePeriod of data useDataset ID
Satoshi YuharaSRL inc./ H.U. Group Research Institute G.K.JapanValidation of Rare Disease Clinical Reporting System2024-07-01 – 2026-07-01