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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

hum0329-v1Release info

Latest

Research title

Next-generation sequencing-based comprehensive genetic analysis of undiagnosed disease

Research overview

Aims
To perform a comprehensive genetic analysis using next-generation sequence technology to make genetic diagnoses of "undiagnosed diseases".
Methods
Whole exome sequencing analysis
Participants/materials
Patients with undiagnosed diseases and their parents
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000641NGS (Exome)
  • WES
Controlled-access (Type I)2022-04-20

Data provider

Principal investigator
Hideki Muramatsu
Affiliation
Department of Pediatrics, Nagoya University Graduate School of Medicine

Research projects

No research projects.

Grants

NameTitleProject number
Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Nationwide cross-sectional case collection, banking, and comprehensive analysis of undiagnosed genetic disorders
  • JP16ek0109166
Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Research on the development of diagnostic programs for undiagnosed diseases
  • JP17ek0109151
Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Initiative on Rare and Undiagnosed Diseases(IRUD): Research on the development of diagnostic programs for rare undiagnosed diseases
  • JP20ek0109301

Related publications

TitleDOIDataset ID
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
https://doi.org/10.1038/s41598-022-14161-6 (opens in a new tab)

Controlled access users

Principal investigatorAffiliationCountry/RegionResearch titlePeriod of data useDataset ID
Kunihiro NishimuraResearch, Xcoo, Inc.JapanDevelopment of an automated whole exome analysis diagnostic algorithm for intractable and rare diseases using public databases2023-09-08 – 2027-03-31
Satoshi YuharaSRL inc./ H.U. Group Research Institute G.K.JapanValidation of Rare Disease Clinical Reporting System2024-07-01 – 2026-07-01
Satoshi FujiiMolecular pathology, Yokohama City UniversityJapanA observational study to control the accuracy of PD-L1 immunohistochemistry and to elucidate the biological significance of the staining affinity in squamous cell carcinoma across multiple organs2025-10-07 – 2026-07-23