Oxford Nanopore at ASHG 2023

November 1, 2023 - November 5, 2023
Washington, DC, United States

Overview

The annual American Society of Human Genetics is bringing together over 8,000 scientists, clinical researchers, and other industry leaders, over a five-day program of exciting updates from the community and their implications for basic science, medicine, and society. The scientific programme reflects this broad scope and includes top invited international experts, selected abstract presentations including candidates for young investigators awards, educational sessions, and poster presentations. This event is a unique opportunity to connect, share results, and shape the future of human genetics research.

Oxford Nanopore Technologies (booth #203) is hosting a wealth of exciting and informative activities at the ASHG Annual Meeting. Join us for on-booth new product demonstrations, on-booth Data for Breakfast presentations, and for our Industry Education Session showcasing innovative external speakers. There will also be an opportunity to meet our scientists at poster sessions. See below for details and registration for events!

Industry Education Session

From large scale cohort characterisation to deciphering rare diseases, what you’re missing matters

Location: Room 143AB

Date: Friday, November 3rd

Time: 12:30 pm — 1:30 pm

Why choose between scale and resolution? Researchers are now adopting nanopore sequencing across thousands of clinical research samples to achieve complete analysis and discover new variants that are not accessible by other methods.

Why run multiple assays and choose between turnaround time and resolution? Nanopore sequencing comprehensively interrogates the genome, allowing the validation of multiple types of genomic variants and methylation in a single assay.

Join us to hear the latest update from Kimberley Billingsley (NIH Intramural Center for Alzheimer’s and Related Dementias) on how the development of scalable nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation in Alzheimer’s samples. Lucy Kaplun (Variantyx, USA) will present how her team has consolidated their variant validation pipeline, during her talk ’Combination of ONT WGS with short read based WGS sets new standards in routine clinical testing’. To conclude the session, Rosemary Sinclair Dokos, SVP of Product Management at Oxford Nanopore Technologies, will share how the latest technological advancements in nanopore sequencing enable real-time, high-accuracy sequencing of genetic variation at any scale.

To register, please review the details and submit the form on this page.

Registration is required due to limited space. Your place will be confirmed by an email from events@nanoporetech.com.

Industry Education Session Agenda

Agenda
Details

12:30 — 1:30 pm EST

Room 143AB

12:30 — 12:40

A complete picture of the genome, finally

Cora Vacher Oxford Nanopore Technologies

12:40 — 1:00

Combination of ONT WGS with short read based WGS sets new standards in routine clinical testing.

Lucy Kaplun Variantyx

1:00 — 1:20

Long-read sequencing of hundreds of human brains provides insight into the impact of structural variation and methylation

Kimberley Billingsley NIH, National Institute on Aging

1:20 — 1:30

Oxford Nanopore update

Rosemary Dokos Oxford Nanopore Technologies

CoLabs

Single sample, haplotype-resolved genetic and epigenetic variation calling using nanopore sequencing

Location: CoLab Theater 1

Date: Thursday, November 2nd

Time: 3:45 pm — 4:15 pm

In this CoLab presentation, Philipp Rescheneder, Director of Genomic Applications Bioinformatics, Oxford Nanopore Technologies, will share how long nanopore reads enable the accurate detection of genetic and epigenetic variation using a single dataset. We will cover the full range from small genomic changes like SNPs and Indels to larger rearrangements in difficult-to-resolve regions like SMN1 and SMN2, as well as illustrate the importance of assigning variants to the correct haplotype through phasing without the need for parental data. We will show how adaptive sampling — a targeted sequencing method unique to Oxford Nanopore — enables cost-effective analysis of specific genomic regions, e.g. regions relevant to pharmacogenetics research, without additionally library preparation. Finally, we will show how nanopore sequencing elucidates the full spectrum of structural variation using haplotype-resolved assemblies as well as improving the understanding of tumour development using and end-to-end native tumour/normal sequencing workflow with long nanopore reads.

Oxford Nanopore: Delivering on the promise and future of genetic and genomic medicine

Location: CoLab Theater 1

Date: Friday, November 3rd

Time: 3:00 pm — 3:30 pm

Join this CoLab session for an in-depth look at nanopore sequencing and its impact on genetic and genomic medicine. James Brayer, Director of Product Management, Oxford Nanopore Technologies, will share the latest updates to our cutting-edge platform and how researchers are implementing native DNA and RNA nanopore sequencing to gain a more complete understanding of the biology underlying genetic and genomic disease. Learn how our capability for simultaneous genomic and epigenomic sequence analysis enables a growing community to easily develop a multi-omic view into biology, from focused fundamental or translational research projects to high-throughput population studies.

Using nanopore technology, you can fully characterise human genetic variation across whole genomes, targeted regions, or full-length RNA transcripts. Nanopore sequencing enables comprehensive analysis of structural variation, repetitive regions, haplotype phasing, RNA splice variants, isoforms, fusion transcripts, oligonucleotide base modifications, and more.

Booth demos

Demo schedule

Thursday, November 2nd

Friday, November 3rd

Saturday, November 4th

10:30 am — Loading a flow cell

Jess Anderson & Carly Tyer, Oxford Nanopore Technologies

11:00 am — Loading a flow cell

Jess Anderson & Carly Tyer, Oxford Nanopore Technologies

11:00 am — TurBOT — from sample to analysis, end-to-end nanopore sequencing on a single device.

Steph Wilbraham, Oxford Nanopore Technologies

12:30 pm — PCR-free, flexible enrichment of a comprehensive gene panel

Jess Anderson & Carly Tyer, Oxford Nanopore Technologies

2:00 pm — Scalable nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

Pilar Alvarez Jerez, NIH/CARD

12:30 pm — PCR-free, flexible enrichment of a comprehensive gene panel

Jess Anderson & Carly Tyer, Oxford Nanopore Technologies

4:30 pm — Library recovery, washing and reloading a flow cell

Jess Anderson & Carly Tyer, Oxford Nanopore Technologies

4:00 pm — Tertiary analysis demo

4:00 pm — Library recovery, washing and reloading a flow cell

Jess Anderson & Carly Tyer, Oxford Nanopore Technologies

Data for Breakfast

Visit our booth for Data for Breakfast. The Oxford Nanopore team will present on the topics below. Coffee and pastries will be provided.

Friday, November 3rd — 10:15 AM

Human variation with nanopore sequencing: Repeat expansions and beyond — Phill James, Associate Director, Clinical Applications

Saturday, November 4th — 10:15 AM

Targeted pharmacogenetic sequencing with Nanopore adaptive sampling — Lynn Ly, Genomic Applications Bioinformatician

Event full

We are no longer accepting registrants for this event.

Evening Reception