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Fig. 1 | Clinical Epigenetics

Fig. 1

From: Novel DNA methylation biomarkers show high sensitivity and specificity for blood-based detection of colorectal cancer—a clinical biomarker discovery and validation study

Fig. 1

Overview of study workflow. Infinium Human Methylation450K BeadChip® array data from > 4000 samples including CRC, PBL, normal colorectal mucosa, and other cancer types were used to identify CRC-specific DNA methylation biomarkers. The methylation pattern of candidate marker regions was confirmed by bisulfite Sanger sequencing of paired CRC tissue, normal colorectal mucosa, and PBLs. Methylation-specific ddPCR assays targeting candidate regions were designed and optimized, and clinical validation was performed by evaluating assays in CRC tumour tissue (n = 36) and PBL from blood donors (n = 27). The top three candidates were analysed in two independent cohorts consisting of plasma from CRC patients and controls. CRC colorectal cancer, PBLs peripheral blood leucocytes, ddPCR droplet digital PCR

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