EPIXplorer

EPIXplorer predicts and analyzes enhancer-promoter (E-P) interactions to identify regulatory connections and interpret variants that affect gene expression.

Key Features:

• Integration of Predictive Algorithms: Incorporates nine predictive algorithms to identify potential enhancer-promoter interactions.
• Support for Diverse Data Types: Accepts multiple types of 3D contact data and multi-omics datasets as input.
• Scoring and Annotation: Produces scored outputs annotated with regulatory elements and risk single-nucleotide polymorphisms (SNPs).
• Visualization and Functional Analysis: Provides a Visualization and Downstream module for functional analysis of identified E-P interactions.

Scientific Applications:

• Developmental gene regulation: Elucidates mechanisms of enhancer-promoter interactions underlying normal developmental processes.
• Disease variant interpretation: Links disease-associated and GWAS variants to target gene promoters via DNA looping between enhancers and promoters to aid interpretation of risk SNPs.
• Complex genomic architecture studies: Integrates diverse datasets to analyze genome-wide regulatory architectures.

Methodology:

Integrates nine predictive algorithms with multiple types of 3D contact data and multi-omics datasets, scores and annotates outputs with regulatory element annotations and risk SNPs, and conducts functional analysis via a Visualization and Downstream module.