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Nanopore Digest: 3rd October 2019

Thu 3rd October 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.

Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson’s disease cohort

Mutations in the gene for glucocerebrosidase (GBA), associated with Gaucher disease, elevate the risk of developing Parkinson’s disease. Analysis of the GBA gene is particularly challenging due to a related pseudogene and the presence of complex structural variants at the locus. In this pre-print, Graham et al. describe a method for targeted GBA sequencing and analysis in a New Zealand Parkinson’s disease cohort of 229 cases, using the Oxford Nanopore GridION platform. The team detected six different mutations of potential pathogenic significance in 21 different patients; no structural variants were detected. The authors state that “this work confirmed the utility of nanopore sequencing as a high-throughput method to identify known and novel GBA mutations, and to assign precise haplotypes”.

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A round up from Nanopore Tech Tour

Last week, we hosted the first Nanopore Tech Tour (NTT) in China — on September 23rd we kicked off the tour in Beijing and on the 26th, we welcomed delegates in Shanghai. Both events boasted excellent speaker line-ups from the Nanopore Community and a packed agenda of tutorials and live technology demonstrations. Find out what the speakers had to share in both Beijing and Shanghai on our news pages.

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