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)
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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

hum0165-v1Release info

Latest

Research title

Genetic analysis of familial myelodysplastic syndromes

Research overview

Aims: Investigation of a causal gene of familial myelodysplastic syndromes (MDS)
Methods: Whole exome sequencing was performed in two MDS patients in the same pedigree.
Participants/materials: Two patients of myelodysplastic syndromes
URL: N/A

Datasets

Cart	Dataset ID	Type of data	Analysis method	Access criteria	Date published
	JGAD000240	NGS (Exome)	WES	Controlled-access (Type I)	2020-09-28

Data provider

Principal investigator: Junji Koya
Affiliation: The Universiy of Tokyo Hospital, Department of Hematology and Oncology

Research projects

Name	URL
Investigation of a causal gene of familial myelodysplastic syndromes and its molecular mechanism	N/A

Grants

Name	Title	Project number
KAKENHI Grant-in-Aid for Young Scientists (B)	Investigation of a causal gene of familial myelodysplastic syndromes and its molecular mechanism	17K16181
KAKENHI Grant-in-Aid for JSPS Research Fellows	Investigation of a causal gene and a molecular mechanism of familial myelodysplastic syndromes	15J03679

Related publications

Title	DOI	Dataset ID
A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination.	https://doi.org/10.1038/s41375-019-0385-0 (opens in a new tab)	JGAD000240

Controlled access users

No use of the controlled access data has been recorded.