Chronic lymphocytic leukaemia (CLL) is characterised by specific genomic alterations, including mutations at the IgHV locus and within TP53, and deletions of chromosome 17p. Current screening methods (e.g. FISH and Sanger sequencing) for these predictive biomarkers are limited in terms of cost, speed and sensitivity; short-read sequencing is limited by platform costs, poor read mapping, and GC bias. In this pre-print, Burns et al. describe the development of a comprehensive, rapid, low-cost, nanopore-based alternative to conventional CLL testing. Long-read nanopore sequencing simplified analysis of the full exonic region of TP53 and full-length IgHV genes, and characterised all genomic alterations simultaneously in a single sequencing run. The authors conclude that “nanopore sequencing has the potential to provide accurate, low-cost and rapid diagnostic information in a patient-near setting, and which could be applied to other cancer types”.

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