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Discovery of novel circular RNAs through integration of short- and long-read RNA sequencing

GSE250483 Homo sapiens (human) RNA-seq (gene expression) 13 samples Submitted 2025/11/12 Platform GPL28975Platform GPL20795Platform GPL28352
At a glance

RNA-seq (gene expression) · human · 13 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Homo sapiens (human)
Topic
Colorectal cancerThis series is part of our curated briefing on it.
Samples
13 samples: 13 samples, each with a distinct title — no replicated groupsGroups 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
Integration of Short- and Long-Read RNA Sequencing Enables the Discovery of Circular RNAsCancer research · 2026
Summary (written by the submitters)
Circular RNAs (circRNAs) are associated with crucial hallmarks of tumorigenesis. Select circRNAs contain circular open reading frames (cORFs) and impact tumorigenesis through encoded small peptides. However, current circRNA detection approaches bias towards using short-read RNA-seq for detecting circRNA backsplice junctions (BSJs) without reliably reconstructing complete circRNA sequences, inhibiting accurate cORF prediction.
Read the full summary ↓
To address these challenges, we performed long-read sequencing to enrich for full-length circRNAs that could serve as a guide for short-read alignment. This approach “rescued” circRNAs eluding existing tools focused on circRNA detection from short reads and enabled the development of an open-source bioinformatics workflow that characterizes and rescues circRNAs by integrating short- and long-read RNA-seq: CHRIS (CHaracterizing CircRNAs by Integrative Sequencing). Application of the approach to colorectal cancer (CRC) cell lines and patient samples revealed 6,445 non-canonical isoforms of known circRNAs of which 69 were altered during cancer metastasis. Validation experiments in CRC cell lines confirmed endogenous expression of 11 high-confidence circRNAs rescued by CHRIS. Next, proteogenomic analysis using 67,326 circRNAs detected by CHRIS and mass spectrometry data from 261 CRC patients from Clinical Proteomic Tumor Analysis Consortium (CPTAC) identified 6,848 peptides encoded by circRNAs, including 994 only detectable with long-read integration and 914 potential neoantigens. Overall, this research develops an approach that can facilitate circRNA detection and provide valuable resources for future circRNA tumor biology research.
Published in
Integration of Short- and Long-Read RNA Sequencing Enables the Discovery of Circular RNAs
Swift SZ, Webster J, Mai H et al. · Cancer research 2026 · PMID 41329712 · doi:10.1158/0008-5472.CAN-25-1114
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 GSE250483_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: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1054143 and SRA study SRP478730. Searching any of these in the dataset finder brings you back here.

Study design
13 samples, each with a distinct title — no replicated groups

Supports a case/control comparison: 2 samples read as cases, 1 as controls.

How we read this: Read from 13 sample titles: 13 distinct titles with little repetition. 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
More Colorectal cancer datasets

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