Research ID
hum0324-v1Release info
Research title
Genetic analysis of cerebrovascular diseases and neuromuscular disorders
Research overview
- 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
- URL
- N/A
Datasets
| Cart | Dataset ID | Type of data | Analysis method | Access criteria | Date published |
|---|---|---|---|---|---|
| JGAD000634 | NGS (WGBS) |
| Controlled-access (Type I) | 2022-03-31 |
Data provider
- Principal investigator
- Tatsusada Okuno
- Affiliation
- Department of Neurology, Osaka University Graduate School of Medicine
Research projects
| Name | URL |
|---|---|
Gene expression analysis of systemic sclerosis patients. | N/A |
Grants
| Name | Title | Project number |
|---|---|---|
KAKENHI Grant-in-Aid for Scientific Research (C) | Elucidation of the type1 interferon signature in Neuromyelitis optica |
|
Related publications
| Title | DOI | Dataset ID |
|---|---|---|
Cell-Free DNA Derived From Neutrophils Triggers Type 1 Interferon Signature in Neuromyelitis Optica Spectrum Disorder |
Controlled access users
No use of the controlled access data has been recorded.