Xenograft supervision and joint methylation-fragment-end encoding define a reusable molecular scoring layer for cell-free tumor DNA
Circulating tumor DNA is often scarce in plasma, and regional methylation summaries can obscure informative differences between individual molecules. Here we present ctDNA-BERT, a Transformer that scores individual bisulfite reads without predefined differentially methylated regions by jointly encoding CpG methylation state, nucleotide context and the fragment 3' end. Xenografts provide molecule-level tumor supervision. The resulting frozen scorer supported tumor-fraction estimation in synthetic and patient-derived xenograft mixtures and enriched tumor-concordant methylation and chromatin-accessibility signals in independent hepatocellular carcinoma and stage III pan-cancer plasma without cohort-specific retraining. Features derived from selected reads discriminated stage I cancers from healthy controls in a retrospective cohort of 1,477 specimens, achieving an out-of-fold area under the receiver operating characteristic curve of 0.884. By separating molecular scoring from sample-level inference, ctDNA-BERT provides a reusable read-level scoring layer for cell-free DNA methylation analysis.
Authors
- Xuhua Li
- Hongcang Gu (ORCID: https://orcid.org/0000-0002-1439-7606)
- Haoyi Wang (ORCID: https://orcid.org/0000-0003-2135-1769)
- Fan Zhang (ORCID: https://orcid.org/0000-0002-4627-7019)
- Han Shu (ORCID: https://orcid.org/0009-0000-5854-0526)
- Peimeng Zhen (ORCID: https://orcid.org/0009-0003-5504-6321)
- Jiamin Sun (ORCID: https://orcid.org/0009-0004-6404-3787)
- Shang Lou
- Xiaojun Sun (ORCID: https://orcid.org/0009-0006-1859-4304)
- Hailong Zhao (ORCID: https://orcid.org/0009-0008-5111-8443)
- Jiantao Shi
- Ningning Zhao
- Jian Huang
- Rui Wang
- Xuchao Zhang
- Tao Wang
- Fang Liu
- Han Li
Institutions
- University of Science and Technology of China (CN)
- Northwestern Polytechnical University (CN)
- Chinese Academy of Sciences (CN)
- Harbin Institute of Technology (CN)
- Hefei Institutes of Physical Science (CN)
- Ministry of Industry and Information Technology (CN)
Publication Details
- Journal
- bioRxiv (Cold Spring Harbor Laboratory)
- Published
- 2026-10-27
- DOI
- https://doi.org/10.64898/2026.10.26.761533
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- preprint
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Anhui Province