NBDC Research ID: hum0324.v1



Aims: To perform genomic analysis of neuromuscular diseases in order to improve diagnosis, elucidate pathogenesis, and establish new therapeutic strategies. In particular, we aim to elucidate the pathogenesis of the disease by performing comprehensive analysis using DNA sequencers.

Methods: Cell-free DNA was extracted from plasma and analyzed by whole genome bisulfite sequencing technology in NMOSD patients and healthy controls who had given prior consent.

Participants/Materials: neuromyelitis optica (NMOSD) positive for AQP4 antibody and 8 healthy controls


Dataset IDType of DataCriteriaRelease Date
JGAS000515 NGS (WGBS) Controlled-access (Type I) 2022/04/11

*Release Note

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





NMOSD (ICD10: G360) positive for AQP4 antibody: 10 cases

healthy controls: 8 individuals

Targets WGBS
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source Cell-free DNAs extracted from plasma
Cell Lines -
Library Construction (kit name) Accel-NGS™ Methyl-Seq DNA library Kit, Methyl-Seq Set A Indexing Kit (Swift Biosciences™)
Fragmentation Methods -
Spot Type Single-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Japanese Genotype-phenotype Archive Dataset ID JGAD000634
Total Data Volume 66.2 GB (fastq)
Comments (Policies) NBDC policy



Principal Investigator: Tatsusada Okuno

Affiliation: Department of Neurology, Osaka University Graduate School of Medicine

Project / Group Name: Gene expression analysis of systemic sclerosis patients.

URL: -

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research (C) Elucidation of the type1 interferon signature in Neuromyelitis optica 20K07759



TitleDOIDataset ID
1 Cell-Free DNA Derived From Neutrophils Triggers Type 1 Interferon Signature in Neuromyelitis Optica Spectrum Disorder doi: 10.1212/NXI.0000000000001149 JGAD000634


USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use