NCM 2021: Phasing analysis of lung cancer genomes using PromethION R10.4

To analyze chromosomal backgrounds of cancerous mutations, we conducted the phasing analysis of cancer genomes for a total of 20 non-small cell lung cancer specimens of Japanese patients. By the combinatory use of short- and long-read sequencing data, an average phased block N50 length of 834 kb was obtained with 99% concordance rate. Further integrations of long-read epigenomic and transcriptomic data with the phased mutations revealed that haploid chromosomes are not always at the same condition regarding their transcriptomic and epigenomic patterns. We further clarified those distinct chromosomal backgrounds should invoke large-scale chromosomal aberrations, such as chromothripsis.