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Oxford Nanopore To Showcase What You’re Missing Matters When Investigating Disease Enabled by Nanopore Sequencing

The letters of the DNA bases.
Credit: iStock.
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At the 75th annual American Society of Human Genetics (ASHG) conference in Washington, DC, Oxford Nanopore Technologies will showcase that what you’re missing matters in human genetics, unveiling how nanopore sequencing is enabling researchers to gain richer insights through analysis of native DNA coupled with any-length reads beyond traditional genomics. 

Presentations by the Oxford Nanopore team and nanopore customers will demonstrate how nanopore sequencing is revealing more powerful information about underlying causes of disease by enabling information-rich, rapid and accessible genetic analysis at scale. Full comprehensive mapping of the human genome, telomere-to-telomere (T2T), is now possible using only nanopore sequencing having previously been assembled with multiple sequencing technologies. 

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Rosemary Sinclair Dokos, SVP of product and programme management, will provide an update on the growing portfolio of products and solutions to support users in scaling nanopore sequencing. This includes TurBOT, Oxford Nanopore’s benchtop automated sample preparation, offering automated extraction and library preparation, coupled with sequencing, basecalling, and data analysis for single or multiple samples to provide sample to answer workflows, all through one click and one intuitive user interface. 

Our goal is to simplify sequencing and analysis workflows. Rosemary will present Oxford Nanopore’s one point-and-click analysis workflow for human genomics using EPI2ME, our proprietary secondary analysis software. This will seamlessly integrate with tertiary analysis tools from leading partners, including Saphetor and Geneyx, to support a range of clinical application workflows. 

The Oxford Nanopore team will be represented on booth #203 from the 1st - 5th November and will host a wide range of sessions, from booth demos to CoLab presentations, and more.