Seminal plasma cfDNA fragmentomics landscape delineates male infertility subtypes.

ABSTRACT:

Background

While cell-free DNA (cfDNA) fragmentomics has transformed liquid biopsy applications in prenatal screening and oncology, its potential in male reproductive health remains unexplored.

Methods

Through integrated whole-genome sequencing and jagged end sequencing (Jag-Seq) coupled with non-CG(CH) methylation analysis, we established the first fragmentomic atlas of seminal plasma (SP) cfDNA from 18 healthy donors, with 20 plasma cfDNA samples. This approach was then applied to 33 patients (14 with varicocele [VC] and 19 with nonobstructive azoospermia [NOA]) to characterize disease-specific fragmentomic features. ROC analysis was employed to study the potential diagnostic ability for these two diseases.

Results

Size distribution profiling showed SP cfDNA enrichm

SUBMITTER: Wu X 

PROVIDER: S-EPMC12495879 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature