Enhlink infers distal and context-specific enhancer-promoter linkages

Genome Biol. 2024 Sep 2;25(1):235. doi: 10.1186/s13059-024-03374-9.

Abstract

Enhlink is a computational tool for scATAC-seq data analysis, facilitating precise interrogation of enhancer function at the single-cell level. It employs an ensemble approach incorporating technical and biological covariates to infer condition-specific regulatory DNA linkages. Enhlink can integrate multi-omic data for enhanced specificity, when available. Evaluation with simulated and real data, including multi-omic datasets from the mouse striatum and novel promoter capture Hi-C data, demonstrate that Enhlink outperfoms alternative methods. Coupled with eQTL analysis, it identified a putative super-enhancer in striatal neurons. Overall, Enhlink offers accuracy, power, and potential for revealing novel biological insights in gene regulation.

Keywords: Chromatin accessibility; Enhancers inference; Linkage analysis; Machine-learning; Single-cell.

MeSH terms

  • Animals
  • Corpus Striatum / metabolism
  • Enhancer Elements, Genetic*
  • Mice
  • Promoter Regions, Genetic*
  • Quantitative Trait Loci
  • Single-Cell Analysis
  • Software