Overview
With the genetics behind cancer being both diverse and complex, there are many genomic deviations that need to be detected and analysed to further our understanding of the disease. Using nanopore sequencing, scientists can achieve the most comprehensive insight into cancer genomes.
Highlights
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Ayako Suzuki: Characterisation of mutation patterns in non-small cell lung cancer genomes by long read whole-genome sequencing and phasing analysis
In cancer genomes, there are various types of genomic alterations from point mutations to large structural variants. In this study, we performed long and short read whole-genome sequencing and phasing analysis of 20 non-small cell lung cancer genomes and characterized patterns of mutation occurrences in a haplotype level. We also analyzed DNA methylation and transcriptome data which were obtained by long read sequencing to reveal possible causes/consequences of genomic mutation occurrences in each haplotype. We found that complicated haplotype-biased aberrations including chromothripsis and kataegis-like events occurred in the genomes of EGFR-mutation-positive lung adenocarcinoma cases.
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Peter Tsai : Detecting missing structural variants in tumour of unknown primary
Structural Variants (SV) are frequent in cancer and are increasing recognised as potent drivers of tumour development, progression and resistance to therapy. In this talk I will discuss our work in progress using Oxford Nanopore adaptive sampling technologies to identify SV in the massively aneuploid tumours of a clinical research sample. Adaptive sampling was able to both confirm SV previously found using short read and 10x linked read technologies and identify new SVs that other technologies were unable to detect. Based on our experience, we expect Oxford Nanopore adaptive sampling technologies to grow in importance for SV analysis in cancer.