End-repair causes methylation underestimation in cell-free DNA sequencing libraries

Cell-free DNA methylation sequencing provides insight into tissue of origin and chromatin structure. In some workflows, generating libraries includes end-repair. Using matched single-stranded and double-stranded libraries prepared from the same cfDNA extracts, we show that end-repair in double-stranded DNA libraries reduces globally inferred CpG methylation leading to decreased tissue of origin accuracy. Trimming read termini partially mitigates this bias but decreases coverage and removes fragmentomic information compared to single-stranded DNA libraries, which forego end-repair.

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Publication Details

Journal
The Journal of Liquid Biopsy
Published
2026-01-03
DOI
https://doi.org/10.1016/j.jlb.2026.100455
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00
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article

End-repair causes methylation underestimation in cell-free DNA sequencing libraries

Christopher J. Troll, Alexey Mishin, Ruby Tibet, Varsha Rao et al.
The Journal of Liquid Biopsy
Cancer Genomics and Diagnostics
article

End-repair causes methylation underestimation in cell-free DNA sequencing libraries

Christopher J. Troll, Alexey Mishin, Ruby Tibet, Varsha Rao, Tobin E. Groth
article en

Abstract

Cell-free DNA methylation sequencing provides insight into tissue of origin and chromatin structure. In some workflows, generating libraries includes end-repair. Using matched single-stranded and double-stranded libraries prepared from the same cfDNA extracts, we show that end-repair in double-stranded DNA libraries reduces globally inferred CpG methylation leading to decreased tissue of origin accuracy. Trimming read termini partially mitigates this bias but decreases coverage and removes fragmentomic information compared to single-stranded DNA libraries, which forego end-repair.

The Journal of Liquid BiopsyVol. 11
ET Enterprises (United Kingdom) (GB)
Openalex Percentile: Top 98%
Cancer Genomics and Diagnostics
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