Colorectal Cancer Biomarker Identification via Joint DNA-Methylation and Transcriptomics Analysis Workflow.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:40565513", "kind": "science-record", "revision": 4, "content_hash": "sha256:d0994119b30b5ca67e65d959a8e7e7c4328f3b8dec5a5fa7527a669c938ba18a", "created_at": "2026-11-01T20:30:39Z", "updated_at": "2026-11-01T22:56:42Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Colorectal Cancer Biomarker Identification via Joint DNA-Methylation and Transcriptomics Analysis Workflow.", "doi": "10.3390/genes16060620", "pmid": "40565513", "authors": ["Olajumoke B Oladapo", "Marmar R Moussa"], "journal": "Genes", "year": 2025, "abstract": "Background: Colorectal cancer (CRC) is a term that refers to the combination of colon and rectal cancer as they are being treated as a single tumor. In CRC, 72% of tumors are colon cancer, while the other 28% represent rectal cancer. CRC is a multifactorial disease caused by both genetic and epigenetic changes in the colon mucosal cells, affecting the oncogenes, DNA repair genes, and tumor suppressor genes. Currently, two DNA methylation-based biomarkers for CRC have received FDA approval: SEPT9, used in blood-based screening tests, and a combination of NDRG4 and BMP3 for stool-based tests. Although DNA methylation biomarkers have been explored in colorectal cancer (CRC), the identification of robust and clinically valuable biomarkers remains a challenge, particularly for early-stage detection and precancerous lesions. Patients often receive diagnoses at the locally advanced stage, which limits the potential utility of current biomarkers in clinical settings. Methods: The datasets used in this study were retrieved from the GEO database, specifically GSE75548 and GSE75546 for rectal cancer and GSE50760 and GSE101764 for colon cancer, summing up to a total of 130 paired samples. These datasets represent expression profiling by array, methylation profiling by genome tiling array, and expression profiling by high-throughput sequencing and include rectal and colon cancer samples paired with adjacent normal tissue samples. Differential analysis was used to identify differentially methylated CPG sites (DMCs) and identify differentially expressed genes (DEGs). Results: From the integration of DMCs with DEGs in colorectal cancer, we identified 150 candidates for methylation-regulated genes (MRGs) with two genes common across all cohorts (GNG7 and PDX1) highlighted as candidate biomarkers in CRC. The functional enrichment analysis and protein-protein interactions (PPIs) identified relevant pathways involved in CRC, including the Wnt signaling pathway, extracellular matrix (ECM) organization, among other enriched pathways. Conclusions: Our findings show the strength of our in silco computational approach in jointly identifying methylation-regulated biomarkers for colon cancer and highlight several genes and pathways as biomarker candidates for further investigations.", "claims": [{"id": "claim-method", "statement": "Differentially expressed genes (DEGs) between normal and cancer tissue samples were identified using the Limma package [12].", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:40565513", "locator": "sections[6] \"2.4. Identification of Differentially Expressed Genes (DEGs)\" paragraph 2", "quote": "Differentially expressed genes (DEGs) between normal and cancer tissue samples were identified using the Limma package [12]."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The data used in this work are publicly available from GEO archive under accession number GSE75550, GSE50760 and GSE101764.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:40565513", "locator": "sections[19] \"Data Availability Statement\" paragraph 2", "quote": "The data used in this work are publicly available from GEO archive under accession number GSE75550, GSE50760 and GSE101764."}], "state": "complete"}, {"id": "claim-target-result", "statement": "The integration identified 150 methylation-regulated gene candidates, with GNG7 and PDX1 shared across all cohorts.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:40565513", "locator": "sections[0] \"Abstract\" paragraph 1", "quote": "From the integration of DMCs with DEGs in colorectal cancer, we identified 150 candidates for methylation-regulated genes (MRGs) with two genes common across all cohorts (GNG7 and PDX1) highlighted as candidate biomarkers in CRC."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "The integration identified 150 methylation-regulated gene candidates, with GNG7 and PDX1 shared across all cohorts.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:40565513"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. This lane did not download the dataset or read its licence.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE101764"], "outputs": ["the source data with its repository provenance"], "instruments": [], "reagents": []}, {"id": "run_analysis", "order": 3, "name": "Run the published analysis", "kind": "analysis", "state": "complete", "blocked_on": null, "description": "Apply the paper's statistical method to the resolved series and compare the result with the published target.", "duration_hours": null, "parameters": {}, "inputs": ["data:geo:GSE101764"], "outputs": ["the replicated result and its comparison"], "instruments": [], "reagents": []}], "materials": [], "instruments": [], "reagents": [], "conditions": {}, "gaps": []}, "data": {"state": "partial", "assets": [{"id": "source:pmid:40565513", "role": "manuscript", "format": "xml", "media_type": "application/xml", "uri": "https://doi.org/10.3390/genes16060620", "sha256": 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