An encyclopedia of enhancer-gene regulatory interactions in the human genome.

ABSTRACT: Identifying transcriptional enhancers and their target genes is essential for understanding gene regulation and the impact of human genetic variation on disease^1-6. Here we create and evaluate a resource of >13 million enhancer-gene regulatory interactions across 352 cell types and tissues, by integrating predictive models, measurements of chromatin state and 3D contacts, and largescale genetic perturbations generated by the ENCODE Consortium⁷. We first create a systematic benchmarking pipeline to compare predictive models, assembling a dataset of 10,411 elementgene pairs measured in CRISPR perturbation experiments, >30,000 fine-mapped eQTLs, and 569 fine-mapped GWAS variants linked to a likely causal gene. Using this framework, we develop a new predictive model, ENCO

SUBMITTER: Gschwind AR 

PROVIDER: S-EPMC10680627 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature