NBDC Research ID: hum0018.v1



Aims: Identify causative genes or susceptible genes in neurodegenerative diseases

Methods: Exome sequence analysis using Illumina HiSeq 2000

Participants/Materials: 14 patients with multiple system atrophy and 7 healthy control subjects


Dataset IDType of DataCriteriaRelease Date
JGAS000009 NGS (Exome) Controlled-access (Type I) 2015/02/03

*Release Note 

*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more




Participants/Materials Fourteen patients with multiple system atrophy and 7 healthy control subjects
Targets Exome
Target Loci for Capture Methods


Platform Illumina [HiSeq 2000]
Library Source gDNA extracted from peripheral blood cells
Cell Lines -
Library Construction (kit name)

SureSelect Human All Exon 50 Mb Kit

Fragmentation Methods Ultrasonic fragmentation (Covaris S220)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000009
Total Data Volume 260 GB
Comments (Policies)

NBDC policy



Principal Investigator: Shoji Tsuji

Affiliation: Department of Neurology, Graduate School of Medicine, The University of Tokyo

Project / Group Name:

Funds / Grants (Research Project Number):

NameTitleProject Number
Ministry of Education, Culture, Sports, Science and Technology Japan (MEXT) KAKENHI Genome Science 211S0002



TitleDOIDataset ID
1 Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. doi:10.1056/NEJMoa1212115 JGAD000009


USERS (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use
Satoshi Yuhara Bioinformatics section, SRL inc. Japan Validation of Rare Disease Clinical Reporting System JGAD000009 2024/07/01-2027/03/31