An encyclopedia of human enhancer-gene regulatory interactions.
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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.