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Open Chromatin Guided Interpretable Machine Learning Reveals Cancer-Specific Chromatin Features in Cell-free DNA

GSE279542 Homo sapiens (human) ChIP-seq / ATAC-seq (genome binding and open chromatin) 20 samples Submitted 2025/09/08 Platform GPL24676
At a glance

ChIP-seq / ATAC-seq (genome binding and open chromatin) · human · 20 samples

What it is
ChIP-seq / ATAC-seq (genome binding and open chromatin)Where proteins bind the genome, or which regions are open and active.
Organism
Homo sapiens (human)
Samples
20 samples: 8 × Pancreatic_Cancer_cfDNA vs 6 × Healthy_Donor_cfDNA vs 5 × Breast_Cancer_cfDNAGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Open chromatin-guided interpretable machine learning reveals cancer-specific chromatin features in cell-free DNACommunications biology · 2025
Summary (written by the submitters)
Cell-free DNAs (cfDNAs) are DNA fragments found in blood, originating mainly from immune cells in healthy individuals and from both immune and cancer cells in cancer patients. While cancer-derived cfDNAs carry mutations, they also retain epigenetic features such as DNA methylation and nucleosome positioning. In this study, we examine nucleosome enrichment patterns in cfDNAs from breast and pancreatic cancer patients and find significant enrichment at open chromatin regions.
Read the full summary ↓
Differential enrichment is observed not only at cancer cell type specific ATAC-seq peaks but also at CD4? T cell specific peaks, suggesting both tumor- and immune-derived contributions to the cfDNA signal. To leverage these patterns, we apply an interpretable machine learning model (XGBoost) trained on cell type specific open chromatin regions. This approach improves cancer detection accuracy and highlights key genomic loci associated with the disease state. Our pipeline provides a robust and interpretable framework for cfDNA-based cancer detection.
Published in
Open chromatin-guided interpretable machine learning reveals cancer-specific chromatin features in cell-free DNA
Gunarathna SD, Nagornyuk A, Belabbaci NA et al. · Communications biology 2025 · PMID 41225146 · doi:10.1038/s42003-025-08920-0
This dataset
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE279542_RAW.tar (it can run to tens of gigabytes).

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

What the files usually look like: Look for peak files (.bed, .narrowPeak) and signal tracks (.bigWig) among the supplementary files; the raw reads are on ENA.

Also filed as BioProject PRJNA1173218 and SRA study SRP538729. Searching any of these in the dataset finder brings you back here.

Study design
8 × Pancreatic_Cancer_cfDNA vs 6 × Healthy_Donor_cfDNA vs 5 × Breast_Cancer_cfDNA

Supports a case/control comparison: 14 samples read as cases, 6 as controls.

How we read this: 3 replicated groups read from 20 sample titles; they account for 19 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study
Datasets on a similar topic

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Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.