Workflow: tumour-normal sequencingLiterature
Date: 4th August 2023
Genomic instability is characteristic of most cancers. Paired tumour-normal whole-genome sequencing enables a deeper understanding of genomic and epigenomic variability in cancer, which will prompt the discovery of new cancer biomarkers and new insights into the genetics of treatment-resistant tumours.
Capturing a wide range of tumour-specific variation within a single sequencing assay has the potential to enhance the classification accuracy of tumour types and the identification of driver mutations involved in cancer progression. With nanopore sequencing, long, native DNA reads capture single nucleotide variants (SNVs), SVs, copy number variants (CNVs), short tandem repeats (STRs), and epigenetic modifications including both 5mC and 5hmC in a single dataset. The long reads span complex and repetitive regions, thus simplifying phasing. Variants can be confidently assigned to the maternal or paternal chromosome, providing deeper resolution for the molecular characterisation of cancer research samples.
Here we present an end-to-end workflow to detect somatic variation between tumour-normal paired research samples using the PromethION sequencing device range.