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

hum0271-v1Release info

Latest

Research title

Comprehensive genome analysis related to individual differences in phenotypic expression in autosomal dominant diseases caused by haploinsufficiency

Research overview

Aims: Analyze the genetic factors involved in the expression and severity of the neurofibromatosis type 1 phenotype
Methods: Using patient-derived peripheral blood, whole regional DNA sequencing and mRNA variant analysis of NF1 are performed to extract mutations and polymorphisms involved in disease severity.
Participants/materials: Patients with neurofibromatosis type 1
URL: N/A

Datasets

Cart	Dataset ID	Type of data	Analysis method	Access criteria	Date published
	JGAD000394	NGS (Target Capture, Target RNA-seq)	Targeted DNA sequencing Target RNA-seq	Controlled-access (Type I)	2021-05-10

Data provider

Principal investigator: Yo Niida
Affiliation: Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

Research projects

No research projects.

Grants

Name	Title	Project number
The Tokumori Yasumoto Memorial Trust for Researches on Tuberous Sclerosis Complex and Related Rare Neurological Diseases	Analysis of the effect of individual differences in TSC gene mRNA processing on the severity of tuberous sclerosis complex	2019

Related publications

Title	DOI	Dataset ID
Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex	https://doi.org/10.1016/j.jmoldx.2020.12.009 (opens in a new tab)	JGAD000394
Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study	https://doi.org/10.3390/cimb43020057 (opens in a new tab)	JGAD000394

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	JGAD000394