Oxford Nanopore at ASHG 2021: find out how you can use nanopore technology to gain comprehensive, scalable, accurate insights in human genomics

As researchers convene for ASHG online, we’re looking forward to hearing about the very latest in human genomics research using nanopore sequencing over the next few days. We've pulled together some highlights below to help you plan your schedule.

Oxford Nanopore seminar

This seminar took place on Tuesday 19th October, 9am (EDT). You'll hear from these fantastic speakers on their work using nanopore technology in the field of human genomics, and about the latest tech updates for Oxford Nanopore Technologies.

Watch the seminar talks on demand

Danny Miller, University of Washington

Around 50% of genetic disease remain undiagnosed with regards to their underlying genetic abnormality, despite extensive genetic testing. Danny will discuss the future potential of nanopore sequencing technology to improve this diagnostic rate, demonstrating how on-device targeted sequencing (adaptive sampling) could be used to identify and phase complex disease-causing variants and simultaneously detect abnormal methylation status.

Rachel O’Neill, University of Connecticut

In the T2T Consortium, Rachel’s group were tasked with completing the repeat models in the T2T CHM13 human genome. Hear about how her team confirmed that over 50% of the genome comprised repeat sequences, identifying both previously known and novel repeats, including repeat elements that were likely human specific.

Federico Gaiti, University of Toronto

Frederico will discuss his team’s work using long cDNA reads derived from nanopore sequencing of single cells to identify splicing aberrations in haematopoietic cell subpopulations. Using long nanopore reads, the team were able to identify mutations throughout a transcript — they used this to their advantage, capturing mutations within transcripts of splicing factor SF3B1, and investigating their impact on haematopoiesis and the development of myelodysplastic syndrome.

Rosemary Sinclair-Dokos, Oxford Nanopore Technologies

Rosemary will demonstrate the scalability of Oxford Nanopore sequencing during her talk, both across the devices and also different approaches — from targeted sequencing to whole-genome sequencing and high-throughput applications.

Using nanopore technology, it’s possible to sequence anything from short fragments such as amplicons or cell free DNA to ultra-long fragments. With long, native reads, nanopore sequencing can access challenging regions of the genome, resolve complex structural variants, call methylation, and phase over 98% of the genome — all from the same dataset. Rosemary will cover all of these aspects of the technology before introducing the latest Oxford Nanopore developments and upgrades. These include Q20+ chemistry, the latest R10.4 pore, and duplex reads — which are in field now delivering raw read accuracies greater than 99%.

Outside ASHG: additional resources

• Download our methylation Get Started Guide to learn more about direct sequencing of DNA methylation in human genomes using nanopore technology.

• Separating haplotypes in the human genome has historically been challenging. This Knowledge Exchange demonstrates how nanopore ultra-long reads & Pore-C data contain unprecedented haplotype information to generate accurate haplotype-resolved assemblies.

• Find out more about human genomics using nanopore technology on our application pages.

• Learn how you can uncover hidden regions of the human genome with long and ultra-long nanopore sequencing.

• Download this guide to characterising structural variants for enhanced the resolution of  notoriously elusive regions.

Oxford Nanopore CoLab for product demo

For an in-depth look at nanopore sequencing, we also ran a CoLab session on 20th October.

This year’s CoLab session will see experts from the Oxford Nanopore team demonstrate scaling of whole genome sequencing using PromethION, conduct multifactorial analysis on a single dataset & run adaptive sampling on the GridION.

Watch here on demand

Talks to watch

Struggling to select the talks you want to attend? Not surprising with so many fantastic presentations on offer. Here are a few we’ll be starting with:

Talk 1112 Kevin Child, UConn Health

Kevin Child has used nanopore sequencing to identify previously unknown transcript diversity in the developing human heart, which could help explain previously undiagnosed genetic causes of coronary heart disease.

Talk 1069 Hiroki Kiyose, University of Tokyo

Hear how long nanopore sequencing reads enabled Hiroki Kiyose to analyse full-length transcripts and highlight the importance of splicing variants in liver carcinogenesis.

Genomic and epigenomic discoveries from the first truly complete assembly of a human genome (19th October, 3:30 – 5pm EDT), T2T consortium

Earlier this year, the T2T consortium published the most complete human genome to date. During this session, some of the team will provide an in-depth look at the newly resolved regions, their variation across individuals, and the resulting impact on human health, disease, and evolution.

Industry Solutions - Live Lightning Talk (20th October, 12:00-12:15 EDT) Philipp Rescheneder, Oxford Nanopore

Using nanopore technology, SVs, SNPs and methylation can be called and phased from the same dataset. Philipp’s talk will highlight the benefits of this approach and the application of both WGS and targeted adaptive sampling to resolving complex genomic disorders.

In the poster hall

And finally, not to be missed — a wealth of poster presentations (see below) from researchers using nanopore sequencing to overcome some of the key challenges in human genomics research.

• Poster 3543 A Single-Assay Solution for Expanded Carrier Screening Relieves Existing Workflow Constraints and Provides More Comprehensive Analysis – S. Statt... (Asuragen Austin, TX)

• Poster 3132 ACME: An Affinity-based Cas9 Mediated Enrichment method for targeted nanopore sequencing – Shruti Iyer. CSHL.

• Poster 2573 Elucidating genomic and transcriptomic hexanucleotide repeat number and methylation in the X-linked dystonia-parkinsonism-relevant retrotransposon insertion by Nanopore sequencing – Joshua Laß...J. Trinh (Inst. Neurogenetics, Lubeck, Germany).

• Poster 2076 Long-read sequencing analysis of Alzheimer risk gene ABCA7 identifies risk-increasing novel alternative splicing events – Lena Duchateau...K. Sleegers (VIB)

Keep in touch with us on social media (@nanopore) and let us know how your #ASHG21 is going!