Nanopore Digest: 5th September 2019
Thu 5th September 2019
Welcome to the Oxford Nanopore digest - a regular newsletter of updates from the nanopore community. You'll be able to find links to recent publications, presentations and other news. If you'd like to get the digest in your inbox please let us know.
The diagnostic chronic lymphocytic leukaemia genome by nanopore sequencing
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”.
Read our Reasearch Spotlight to see how Timothy Gilpatrick and his team utilised Cas9 to enrich for, and comprehensively analyse multiple cancer-associated loci in breast cell lines.
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