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Oxford Nanopore at ESHG 2026

Gothenburg, Sweden

Oxford Nanopore will be at the ESHG Conference at Booth 310 in June, 2026, hosted in Gothenburg. We will also host a Corporate Session on Monday, 15 June. See additional details below.

Corporate Session


Simplify without compromise: ask more of your workflow

Date: Monday, 15 June

Time: 12:15-13:30 hrs CEST

Location: Room A-3

Oxford Nanopore sequencing brings together comprehensive genetic variant and methylation detection, in one go. For complex disease research where scale is required, our simplified workflow means multi‑layered biological insights are being uncovered in thousands of samples, revealing more biology to transform human health. In this session, Dr Kathy Stirrups will share her work on eating disorders and show that multiomic analysis can be used to identify new variants and their function, deciphering mechanisms of disease that have the potential to be a target for treatment. She will also present results from the rare disease cohort in the NIHR-BioResource. The data-rich results not only build a foundation to better understand rare diseases, but also show the potential for diagnostic yield to improve in the future. Dr Koen Van Gassen will present how their laboratory at the Department of Genetics, University Medical Center in Utrecht, is implementing Oxford Nanopore whole-genome sequencing into their work. They are exploring whether this approach provides an opportunity to streamline multiple assays into a single test, reducing complexity, time, and costs.​

Join us at our workshop to hear more from these speakers and learn about our updated solutions for human genomic analysis.​

Agenda

Monday, 15 June
Monday, 15 June

12:15-13:30

Talk title

Speaker

12:15–12:25

Welcome and introductions

Cora Vacher, Oxford Nanopore Technologies

12:25–12:50

NIHR BioResource: Advancing translational research with Omics technologies

Kathy Stirrups​, NIHR BioResource

12:50–13:15

Development and assessment of a standardized nanopore sequencing workflow for clinical application

Koen van Gassen, University Medical Center Utrecht

13:15–13:30

Q&A

Moderated by Cora Vacher

Speakers


Cora Vacher

Cora Vacher
Job title
Associate Director, Segment Marketing
Institution
Oxford Nanopore Technologies
Biography

Cora Vacher is the Market Segment Associate Director for Human Genetic at Oxford Nanopore Technologies. Cora is passionate about genomics, in particular how genomics can help decipher and alleviate the burden of neurological diseases from neurodevelopmental to late onset neurodegenerative disorders. She came to the UK for a postdoctoral position on the genetics of Huntington’s disease in Cambridge and subsequently moved to commercial organisations.

Kathy Stirrups

kathy-stirrups-colo
Job title
Head of Samples Team
Institution
NIHR BioResource
Biography

As Head of the Samples team at NIHR BioResource, Kathy is responsible for the biobanking of samples from participants and their feasibility and provision for research studies supporting translational medicine. She also manages bespoke large-scale projects generating genetic and other multi-omics data on the sample collection, to assess novel techniques for translation into healthcare systems. Current projects focus on Long Read whole genome sequencing at a population scale and RNA sequencing and proteomics in Rare Disease.

Koen van Gassen

koen-vangassen-color
Job title
Clinical Laboratory Geneticist
Institution
University Medical Center Utrecht
Biography

Koen is a Clinical Laboratory Geneticist at the Department of Genome Diagnostics at UMC Utrecht, where he focuses on the innovation and quality improvement of genetic diagnostics. His expertise includes the genetics of developmental delay, metabolic diseases, and rare diseases, with a strong emphasis on translating emerging genomic technologies into clinical practice. Koen has a leading role in the implementation and optimization of advanced sequencing technologies and diagnostic workflows at UMC Utrecht. Recent work includes ongoing efforts to transition multiple existing diagnostic workflows toward a generic whole genome sequencing workflow.

On-booth drinks reception


Join the Oxford Nanopore team and other nanopore users at booth 310 to chat about current applications of our technology!

Date: Sunday, 14 June, 2026

Time: 16:00 CEST

On-booth presentations

Booth 310
Booth 310

Saturday, 13 June

Sunday, 14 June

Monday, 15 June

10:15 AM

Don’t forget the mighty mitochondria

Rachel Martin, Oxford Nanopore Technologies

Imprinting disorders uncovered: who did this variant come fro Heather Jeffery, Oxford Nanopore Technologies

Don’t forget the mighty mitochondria

Rachel Martin, Oxford Nanopore Technologies

12:15 PM

See the full picture of human variation with Oxford Nanopore

Sirisha Hesketh, Oxford Nanopore Technologies

Redefining target enrichment: Adaptive sampling for digital panels

Michael Jansen, Oxford Nanopore Technologies

See the full picture of human variation with Oxford Nanopore

Sirisha Hesketh, Oxford Nanopore Technologies

12:45 PM

Redefining target enrichment: Adaptive sampling for digital panels

Andreas Klingenhoff, Oxford Nanopore Technologies

See the full picture of human variation with Oxford Nanopore

Sirisha Hesketh, Oxford Nanopore Technologies

Oxford Nanopore Corporate Session in room A-3 12:30–13:30 hrs

4:15 PM

Solving the most complex genetic architectures with state-of-the-art de novo assembly

Heather Jeffery, Oxford Nanopore Technologies

Solving the most complex genetic architectures with state-of-the-art de novo assembly

Heather Jeffery, Oxford Nanopore Technologies

Decode RNA biology with cDNA and direct RNA sequencing

Adrien Leger, Oxford Nanopore Technologies

4:45 PM

Decode RNA biology with cDNA and direct RNA sequencing

Adrien Leger, Oxford Nanopore Technologies

Oxford Nanopore Technologies sequencing of the UK biobank

Doruk Beyter, Amgen deCODE genetics

On-booth presentation descriptions


Don’t forget the mighty mitochondria

A novel approach to generating high coverage mitochondrial and WGS datasets from blood, enabling variant calling and methylation analysis of both genomes from a single dataset.​

Imprinting disorders uncovered: who did this variant come from?

Delving into a Prader-Willi syndrome trio to identify the relationship between the structural variant, the methylation and the parent of origin.​

See the full picture of human variation with Oxford Nanopore

In this demo, we'll show how the EPI2ME wf-human-variation workflow can be used to analyse human whole-genome Oxford Nanopore data, taking you from raw reads through to alignment and variant calling. The workflow comprises subworkflows that detect and phase small variants and indels, structural variants, and call larger copy number changes, as well as genotyping STRs.

Redefining target enrichment: Adaptive sampling for digital panels

In this demo, we'll show how the EPI2ME wf-human-variation workflow can be used to analyse human whole-genome Oxford Nanopore data, taking you from raw reads through to alignment and variant calling. The workflow comprises subworkflows that detect and phase small variants and indels, structural variants, and call larger copy number changes, as well as genotyping STRs.

Solving the most complex genetic architectures with state-of-the-art de novo assembly

An introduction to nanopore-only genome assemblies; when you might want to generate one, how might you go about producing one, what can you achieve with one.​

Decode RNA biology with cDNA and direct RNA sequencing

Description TBC

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