NBDC Research ID: hum0324.v1
SUMMARY
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 ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000515 | NGS (WGBS) | Controlled-access (Type I) | 2022/04/11 |
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MOLECULAR DATA
| Participants/Materials: |
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 |
DATA PROVIDER
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):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Scientific Research (C) | Elucidation of the type1 interferon signature in Neuromyelitis optica | 20K07759 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Cell-Free DNA Derived From Neutrophils Triggers Type 1 Interferon Signature in Neuromyelitis Optica Spectrum Disorder | doi: 10.1212/NXI.0000000000001149 | JGAD000634 |
| 2 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
