Yukata Suzuki from The University of Tokyo in Japan presented at London Calling 2019 on “Identification of a new class of local copy number aberrations in lung cancer genomes using PromethION.” I thought this was timely since today, in class, we started sequencing redbud samples using a PromethION flow cell. Suzuki spoke about starting PromethION sequencing for lung cancer samples to identify drivers of the disease. The coverage helped identify a novel type of structural variants (SVs) in STK11. This complex mutation cannot be identified with short reads. PromethION sequencing helped identify aberrant expression. Suzuki explained that it previously took 33 MinION runs to reach the coverage of two PromethION runs for their mutation searches. Cancerous Local Copy-number Lesions (CLCL) were also identified. The team also found mutations in other cell lines. Their analysis was expanded to clinical samples. The same mutations were found. Whole genome sequencing with the PromethION helped identify previously unknown driver mutations, which may lead to new therapeutic avenues.
