Nanopore Digest: 11th July 2019
Thu 11th July 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.
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications
The characterisation of duplication variants at nucleotide-level resolution is challenging with short-read sequencing. In this article, Watson et al. demonstrate how Cas9-mediated enrichment with long-read nanopore sequencing can be applied in a clinical context, to fully resolve two challenging cases. Both individuals presented with neurodevelopmental problems and had initially been investigated using array CGH. Using the Cas9 approach, the team achieved 500-fold enrichment of the cleavage sites above background read coverage, enabling both cases to be fully characterised at the molecular level, in a rapid and cost-effective way, with nanopore sequencing.
London Calling Review
London Calling is an annual conference dedicated to nanopore sequencing. This review features highlights from London Calling 2019 and interviews with speakers. Read our post event review to discover an overview of the latest research using nanopore sequencing.
Ongoing discussions and questions in the Nanopore Community
Join the conversation and share your experiences.