Omics · study · 2026
Genome-wide RRBS methylation profiling identifies NLRP7 promoter hypermethylation associated with disease severity in epidermolysis bullosa simplex [tissue vs blood RRBS]
Listed in NCBI GEO
Reduced representation bisulfite sequencing (RRBS) was performed to investigate DNA methylation profiles in patients with epidermolysis bullosa (EB) exhibiting variable disease severity.
Description
Differential methylation analysis identified a differentially methylated region within the NLRP7 promoter and first exon. The dataset provides genome-wide DNA methylation profiles generated from peripheral blood leukocyte DNA or skin biopsy and is intended to facilitate studies of epigenetic mechanisms associated with EB disease severity.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE347nnn/GSE347759 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE347759 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1531126 ncbi.nlm.nih.gov/bioproject/PRJNA1531126 ↗
project · from NCBI GEO
Topics
- Stated by source
- Homo sapiens · Methylation profiling by high throughput sequencing
- From keywords
- Life Sciences
- Inferred from text
- Disease 75% · DNA methylation profiling 65% · Sequencing 75%
Provenance · 1 source records, 10 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE347759 | 8 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:methylation-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[method].local:method:dna-methylation-profiling | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[modality].local:modality:sequencing | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |