Nanopore Digest: 9th May 2019
Thu 9th May 2019
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Long read sequencing reveals a novel class of structural aberrations in cancers: identification and characterization of cancerous local amplifications
Up to a third of lung cancer patients remain undiagnosed with respect to their cancerous mutations. Sakamoto and colleagues used the high-throughput, long-read PromethION sequencing platform to identify point mutations and structural variants in lung cancer cell lines and patient samples. During their analysis they identified a class of complex structural aberrations consisting of copy number changes, inversions, and deletions, which they called Cancerous Local Copy number Lesions (CLCLs). These CLCLs could not be characterised by short-read sequencing, demonstrating the significant advantages provided by nanopore long reads in the thorough characterisation of genomic aberrations present in cancer.
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