Data · dataset · 2018
eGenes in mendelian disorders
Listed in DataCite
Chromatin interactions (using Hi-C) and functional (using eQTL) data were used to identify long-range regulatory associations involving >20,000 GWAS variants and their target genes (i.e. eGenes).
Description
Analysis of the OMIM data shows that eGenes, which are also involved in rare Mendelian disorders are spatially associated with eQTLs marked by common variants. These eGenes are given, together with the phenotypes they are associated with.
Links
Where it is published
- Repository landing page auckland.figshare.com/articles/Supplementary_Data_5_eGenes_in_mendelian_disorders/72… ↗
landing page · from DataCite
- DOI doi.org/10.17608/k6.auckland.7295843.v2 ↗
DOI / persistent id · from DataCite
Documentation and papers
Catalogue records · 2
- DataCite API api.datacite.org/dois/10.17608/k6.auckland.7295843.v2 ↗
metadata API · from DataCite
- DataCite Commons commons.datacite.org/doi.org/10.17608/k6.auckland.7295843.v2 ↗
catalogue entry · from DataCite
Topics
- Stated by source
- Basic medicine · Biological sciences
Related
Provenance · 1 source records, 10 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| DataCite | 10.17608/k6.auckland.7295843.v2 | 11 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · DataCite | connector:datacite@1.0.0 | /data/attributes/rightsList |
| byte_size | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:basic-medicine | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:biological-sciences | source · DataCite | connector:datacite@1.0.0 | |
| created_date | source · DataCite | connector:datacite@1.0.0 | |
| description | source · DataCite | connector:datacite@1.0.0 | /data/attributes/descriptions |
| license | source · DataCite | connector:datacite@1.0.0 | /data/attributes/rightsList |
| publication_date | source · DataCite | connector:datacite@1.0.0 | /data/attributes/dates |
| title | source · DataCite | connector:datacite@1.0.0 | /data/attributes/titles/0/title |
| updated_date | source · DataCite | connector:datacite@1.0.0 |