Work

Leveraging allelic imbalance in accessible chromatin to prioritize putative causal variants

Year: 2026

Type: review

Abstract: Genome-wide association studies (GWASs) have uncovered many SNPs associated with complex diseases, but identifying the causal genetic variants remains very difficult. This review focuses on allele-specific chromatin accessibility (CA) variants (ASCAVs)-which are SNPs that influence CA, binding of transcription factors, and gene expression-by integrating allelic imbalance analysis with assay for transposase-accessible chromatin using sequencing (ATAC-seq) data. We discuss the underlying biological mechanisms, methodologies, and benefits of ASCAV detection by ATAC-seq, emphasizing how integrating ASCAVs with GWAS and multiomics datasets enhances the prioritization of putative causal SNPs for functional studies. By leveraging allelic imbalance in ATAC-seq, researchers can bridge the gap between GWAS signals and molecular mechanisms, advancing our understanding of gene regulation.

Source: Trends in Genetics

DOI: 10.1016/j.tig.2025.12.008

Authors: Lordjie Marr O. Morilla, Regina E. Amoaning, Shumeng Luo, Riham G. Moharam, Chien-Ling Huang, Shea Ping Yip

Institution: Hong Kong Polytechnic University

Language: English

Topic: Genomics and Chromatin Dynamics

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $7,030