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.

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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

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preprint

Xenograft supervision and joint methylation-fragment-end encoding define a reusable molecular scoring layer for cell-free tumor DNA

Xuhua Li, Hongcang Gu, Haoyi Wang, Fan Zhang et al.
3 links
bioRxiv (Cold Spring Harbor Laboratory)
Cancer Genomics and Diagnostics
preprint

Xenograft supervision and joint methylation-fragment-end encoding define a reusable molecular scoring layer for cell-free tumor DNA

Xuhua Li, Hongcang Gu, Haoyi Wang, Fan Zhang, Han Shu, Peimeng Zhen, Jiamin Sun, Shang Lou, Xiaojun Sun, Hailong Zhao, Jiantao Shi, Ningning Zhao, Jian Huang, Rui Wang, Xuchao Zhang, Tao Wang, Fang Liu, Han Li
preprint en

Abstract

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.

bioRxiv (Cold Spring Harbor Laboratory)
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)
National Natural Science Foundation of China, Natural Science Foundation of Anhui Province
Good health and well-being
Cancer Genomics and Diagnostics
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