Predicting disease-specific histone modifications and functional effects of non-coding variants by leveraging DNA language models
Our framework establishes a powerful new paradigm for epigenetic research that can be extended to other complex diseases, offering both a valuable tool for variant effect interpretation and a promising strategy for uncovering novel disease mechanisms through epigenetic profiling.
Authors
- Jiangning Song (ORCID: https://orcid.org/0000-0001-8031-9086)
- M Gerstein
- Sihan Chen (ORCID: https://orcid.org/0000-0003-2287-1133)
- Tong Pan (ORCID: https://orcid.org/0009-0003-6676-5727)
- Geoffrey I. Webb
- Xiaoyu Wang
Institutions
- Discovery Institute (US)
- Australian Regenerative Medicine Institute (AU)
- Yale University (US)
- Sustainable Development Institute (US)
- Monash University (AU)
- Monash Institute of Medical Research (AU)
Publication Details
- Journal
- Genome biology
- Published
- 2026-02-14
- DOI
- https://doi.org/10.1186/s13059-026-04003-3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00