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
|Data Set ID||Type of Data||Criteria||Release Date|
|JGAS000515||NGS (WGBS)||Controlled Access (Type I)||2022/04/11|
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NMOSD (ICD10: G360) positive for AQP4 antibody: 10 cases
healthy controls: 8 individuals
|Target Loci for Capture Methods||-|
|Platform||Illumina [NovaSeq 6000]|
|Library Source||Cell-free DNAs extracted from plasma|
|Library Construction (kit name)||Accel-NGS™ Methyl-Seq DNA library Kit, Methyl-Seq Set A Indexing Kit (Swift Biosciences™)|
|Read Length (without Barcodes, Adaptors, Primers, and Linkers)||150 bp|
|Japanese Genotype-phenotype Archive Data set 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.
Funds / Grants (Research Project Number):
|KAKENHI Grant-in-Aid for Scientific Research (C)||Elucidation of the type1 interferon signature in Neuromyelitis optica||20K07759|
|Title||DOI||Data Set ID|
|1||Cell-Free DNA Derived From Neutrophils Triggers Type 1 Interferon Signature in Neuromyelitis Optica Spectrum Disorder||doi: 10.1212/NXI.0000000000001149||JGAD000634|