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.


Ayako Suzuki is an associate professor at the University of Tokyo who graduated from Graduate School of Frontier Sciences, the University of Tokyo with a Ph.D. in 2015. She is currently working on long read sequencing of lung cancer genomes to characterize complicated mutation patterns of cancer genomes in collaboration with National Cancer Center, Japan. She is also conducting multi-layered sequencing analysis for elucidating epigenomic and transcriptomic aberrations in cancer cells.

Authors: Ayako Suzuki