ESHG 2024
1 - 4 June 2024 CEST
Berlin, Germany


Oxford Nanopore are sponsoring, exhibiting and presenting at this event.

The Oxford Nanopore lunchtime corporate satellite Empowering comprehensive sequencing at scale will take place on Monday 3rd June between 12:00 pm – 13:00 pm CEST.

Register below and join the session in good time to take your seat. Seats allocated on a first come first serve basis.

Please also visit us at Booth #310 if you are able to attend the event.

Register for corporate satellite



12:00 – 13:00 hrs CEST

Agenda (subject to change)

12:00 - 12:10 hrs

Catching the unnoticed, what you're missing matters

Cora Vacher, Oxford Nanopore Technologies

12:10 - 12:30 hrs

Clinical WGS on the PromethION

Greg Elgar, Genomics England

12:30 - 12:50 hrs

Large-scale methylation studies using nanopore sequencing

Brynja Sigurpálsdóttir, deCODE genetics

12:50 - 13:00 hrs

Q&A and audience discussion

Facilitated by Cora Vacher, Oxford Nanopore Technologies


picture of Greg Elgar

Clinical WGS on the PromethION

Greg Elgar, Genomics England

I have 40 years’ experience in molecular biology, including 30 years in Genomics at Principal Invest...

picture of Brynja Sigurpálsdóttir

Large-scale methylation studies using nanopore sequencing

Brynja Sigurpálsdóttir , Scientist / Researcher, deCODE genetics

I'm a research associate at deCODE genetics and working on my PhD from Reykjavík University. I did m...

picture of Cora Vacher

Catching the unnoticed, what you’re missing matters

Cora Vacher, Segment Marketing Manager, Oxford Nanopore Technologies


'Happy hour' drinks reception

Oxford Nanopore are hosting 'happy hour' drinks Sunday 2nd June between 15:30 - 16:30 CEST at the Oxford Nanopore exhibition booth #310. Join us for plenty of food and drinks and networking!

Register below to secure your place and receive more details about the event.

Register for drinks reception

Booth demos

Demo schedule

Demo title



Flow cell loading: DNA to data within few minutes: a real-time demo

Learn how to load a library onto a flow cell, start sequencing and see the data produced in real time.

Saturday 1st June - 10:00 am

Sunday 2nd June - 10:15 am

Monday 3rd June - 3:30 pm

Single cell demo: Individual cells matter

Here we will discuss single-cell nanopore sequencing from sample to answer, including a live demonstration of the analysis workflow.

Saturday 1st June - 12:30 pm

Sunday 2nd June - 12:15 pm

Monday 3rd June - 10:00 am

EPI2ME demo: Analyse the human genome with few clicks

Learn about EPI2ME, an intuitive analysis platform including integrated and comprehensive analysis of the human genome within a single analysis workflow.

Saturday 1st June - 4:00 pm

Monday 3rd June - 10:30 am

Data for Breakfast

Visit our booth for Data for Breakfast.

The Oxford Nanopore team will present at exhibition booth #310 on Sunday 2nd June from 09:45 — 10:00 AM CEST.

Nanopore sequencing tackles challenging genes​ : Long read sequencing enables greater insights into low complexity genomic regions, for example repeat expansions, and technically challenging regions, for example highly homologous genes. Here we show how nanopore sequencing facilitates in-depth investigation of these regions, particularly SMN1/2, CYP21A2 and genes involved in pharmacogenomics for example CYP2D6/7.

Presentations featuring nanopore research

Saturday 1st June

PL3 What’s new? Highlight Session

17:00 – 17:15

Andrew Sharp: A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

EO1 Telomeres in Cancer

10:30 -12:00

Claus M.Azzalin: Telomere transcription, TERRA and telomere maintenance

CO2 Reproductive genetics


Yan Zhao: The potential of long-read whole genome sequencing based preimplantation genetic testing

CO4 Novel genes in neurogenetic disorders


Maria Cerminara: Somatic Short-Tandem Repeats (STR) amplification in neurodevelopmental disorders with regression: the role of FAN1 and DNA repair pathway deficiencies

Sunday 2nd June

C16 Neuromuscular omics

Franziska Haarich: Allele-specific epigenome therapy in COL6-RD patient-derived primary fibroblasts

C17 Best Poster 1

10:30 -12:00

Barbara Slapnik: Detection of mitochondrial heteroplasmy: A comparison between long nanopore reads and short illumina reads

Vasiliki Tsapalou: “Towards charactersing inversions in 1000 individuals across the human population using single-cell pooled and long-read data”

S14: Long-read sequencing in the clinic

17:00 – 18:30

Danny Miller: Long read sequencing in clinical practice: ending the diagnostic odyssey

Stephan Ossowski: Clinical diagnostics using nanopore sequencing

Monday 3rd June

EO5 Next generation cytogenetics

8:30 – 10:00

Jan Korbel: Insights into cytogenetic aberration by long-read sequencing

C18 New technologies to identify causal variants

10:30 – 12:00

Kartik Chundru: Full-length transcript atlas of the developing human cortex uncovers novel candidate diagnoses in developmental disorders

C22 What is in your brain?

10:30 – 12:00

Vivien Horvath: Local heterochromatin mitigates the impact of transposable element insertion causing a mendelian neurodegenerative disorder

Tobias Haack: Long-read genome sequencing improves diagnostic sensitivity and aids gene identification

W17 Structural Chromosomal variants

14:00 – 15:30

Lars Feuk: Flexible and rapid validation of structural variation using nanopore adaptive sampling

S26 Complete Genomes

17:00 – 18:30

Evan Eichler: Sturctural variation diversity and T2T human genomes

Tuesday 4th June

S30 Repeat expansion disorders: progress and puzzles

9:00 – 10:30

Mark Corbett: ATTTT/ATTTC repeat expansions in Familial Adult myoclonic epilepsy

For details of posters featuring nanopore research, please visit the ESHG 2024 event app

Translating Nanopore sequencing into the clinic

Prof. Ahmad Abou Tayoun, Al Jalila Children's Specialty Hospital and Mohammed Bin Rashid University, will present on the Oxford Nanopore booth between 11:00 - 11:20 AM on Sunday 2nd June.

Abstract: I will briefly present two ONT applications for rare disease diagnostics. The first is a dual-mode PCR-based ONT assay targeting highly homologous genes SMN1 and SMN2 for comprehensive variant analysis supporting SMA diagnostics and screening. The second is a long read whole genome sequencing and methylation assay with an optimized clinical pipeline to prioritize pathogenic variants in patients with rare diseases. We apply this approach to a group of patients, who remain undiagnosed after short read sequencing, and demonstrate the added diagnostic increment, as well as the discovery of novel variation and disease-specific methylation profiles.

Dr Ahmad Abou Tayoun

"...our results demonstrate the potential of long-read sequencing as a single unified assay for routine clinical genetic testing and the discovery of novel rare disease variation"

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