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Fig. 1 | Genome Medicine

Fig. 1

From: Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients

Fig. 1

Schematic overview of SHARC. a (Needle) biopsy or resection from a tumor as well as blood is obtained from a patient at initial diagnosis. Germline DNA (red) and cfDNA (blue) isolated from blood and tumor DNA (brown) from tumor material. Tumor DNA is sequenced on one ONT flow cell. b Tumor-specific SV detection and filtering is performed with the bioinformatic SHARC pipeline. c SV-specific breakpoint-spanning primers are designed. Breakpoint PCR with SV-specific primers is performed on germline and tumor DNA to confirm somatic SVs. d Somatic SVs are used as biomarkers and traced within cfDNA from a patient to monitor disease dynamics in a longitudinal manner

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Genome Medicine

ISSN: 1756-994X

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