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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

hum0375-v1Release info

Latest

Research title

identification of disease responsible genome region and establishment of genome information technology by next generation DNA sequencer

Research overview

Aims
To clarify the responsible genes for phenotypes of tuberous sclerosis.
Methods
Whole exome sequencing analysis
Participants/materials
The patients with tuberous sclerosis complex (TSC)
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000821NGS (Exome)
  • WES
Controlled-access (Type I)2025-05-01

Data provider

Principal investigator
Mari Wataya-Kaneda
Affiliation
Department of Neurocutaneous Medicine, Division of Health Science, Graduate School of Medicine, Osaka University

Research projects

No research projects.

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Challenging Research (Pioneering)
Elucidation of a novel drug delivery mechanism from the skin to the brain bypassing the blood-brain barrier
  • 22K18392

Related publications

TitleDOIDataset ID
Genotype-phenotype correlation for skin and neuropsychiatric features in tuberous sclerosis complex
https://doi.org/10.1093/bjd/ljaf038 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.