Omics · study · 2026
Massively parallel reporter assays identify functional enhancer variants at QT interval GWAS loci
Listed in NCBI GEO
Our goal here is to utilize massively parallel reporter assays (MPRA) to screen for enhancer variants that can explain the observed common variants-based associations with QT interval at GWAS mapped loci.
Description
Towards this goal, we selected 1,018 bi-allelic variants that are associated with QT interval variation across 35 GWAS loci and overlap cardiac open chromatin regions, and performed MPRA-based screen in mouse cardiomyocyte HL-1 cells for variant-centered elements that act as enhancers and have significant allelic difference in their activities.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE286nnn/GSE286052 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE286052 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1207548 ncbi.nlm.nih.gov/bioproject/PRJNA1207548 ↗
project · from NCBI GEO
Topics
- Stated by source
- Mus musculus · Other
- From keywords
- Life Sciences
- Inferred from text
- Bioinformatics and computational biology 71% · Heart 65%
Provenance · 1 source records, 9 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE286052 | 15 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[anatomy].local:anatomy:heart | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[field].anzsrc:group:3102 | enrichment · NCBI GEO | taxonomy-embedding@1.1.0 | title+keywords+description (71%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:other | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:10090 | 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 |