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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

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

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000394NGS (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

NameTitleProject 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

TitleDOIDataset 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)
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)

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