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Long read sequencing reveals a novel class of structural aberrations in cancers: identification and characterization of cancerous local amplifications


Date: 29th April 2019 | Source: BioRxiv

Authors: Yoshitaka Sakamoto, Liu Xu, Masahide Seki, Toshiyuki T. Yokoyama, Masahiro Kasahara, Yukie Kashima, Akihiro Ohashi, Yoko Shimada, Noriko Motoi, Katsuya Tsuchihara, Susumu Kobayashi, Takashi Kohno, Yuichi Shiraishi, Ayako Suzuki, Yutaka Suzuki.

Here we report identification of a new class of local structural aberrations in lung cancers. The whole-genome sequencing of cell lines using a long read sequencer, PromethION, demonstrated that typical cancerous mutations, such as point mutations, large deletions and gene fusions can be detected also on this platform. Unexpectedly, we revealed unique structural aberrations consisting of complex combinations of local duplications, inversions and micro deletions. We further analyzed and found that these mutations also occur in vivo, even in key cancer-related genes. These mutations may elucidate the molecular etiology of patients for whom causative cancerous events and therapeutic strategies remain elusive.

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