NatureJClub
An encyclopedia of human enhancer-gene regulatory interactions.
Nature · · Journal Article · Open access
Gschwind, Mualim + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
A comprehensive resource of over 92 million human enhancer-gene interactions across 369 tissues advances understanding of gene regulation and disease genetics.
- Why it matters: Deciphering enhancer-target gene relationships is crucial for understanding gene regulation and the impact of genetic variation on disease, yet existing knowledge remains incomplete.
- What they did: The team integrated predictive models, chromatin data, 3D contacts, and genetic perturbations to develop ENCODE-rE2G, a machine learning model evaluated with thousands of experimental and genetic datasets.
- The result: This resource enables more accurate mapping of enhancer functions, reveals regulatory network properties, and improves interpretation of noncoding variants, supporting future genetic and biomedical research.
The findingWhy it mattersWhat they didThe result
- Open access
- 4 cites