Motif-based models accurately predict cell type-specific distal regulatory elements
Deciphering how DNA sequence specifies cell-type-specific regulatory activity is a central challenge in gene regulation. We present Bag-of-Motifs (BOM), a computational framework that represents distal cis-regulatory elements as unordered counts of transcription factor (TF) motifs. This minimalist representation, combined with gradient-boosted trees, enables the accurate prediction of cell-type-specific enhancers across mouse, human, zebrafish, and Arabidopsis datasets. Despite its simplicity, BOM outperforms more complex deep-learning models while using fewer parameters. We validate BOM's predictions experimentally by constructing synthetic enhancers from the most predictive motifs, demonstrating that these motif sets drive cell-type-specific expression. By providing direct interpretability and broad applicability, BOM reveals a highly predictive sequence code at distal regulatory regions and offers a scalable framework for dissecting cis-regulatory grammar across diverse species and conditions.
Authors
- Emily Wong (ORCID: https://orcid.org/0000-0003-0315-2942)
- Yihua Yang (ORCID: https://orcid.org/0000-0002-5371-3843)
- Paola Cornejo‐Páramo
- Xuan Zhang (ORCID: https://orcid.org/0000-0002-3089-9809)
- Zelun Li
- Lithin Louis
Institutions
- Victor Chang Cardiac Research Institute (AU)
- UNSW Sydney (AU)
Publication Details
- Journal
- Nature Communications
- Published
- 2025-11-24
- DOI
- https://doi.org/10.1038/s41467-025-65362-2
- Citations
- 3
- Primary Topic
- Genomics and Chromatin Dynamics
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Victor Chang Cardiac Research Institute
- National Computational Infrastructure
- Australian Government
- University of New South Wales
- University of Sydney
- Snow Medical
- National Health and Medical Research Council
- National Cancer Institute