Oxford Nanopore at ASHG 2024
Overview
Over the course of 5 days in Denver, Colorado, the American Society of Human Genomics 2024 Annual Meeting will cover a broad spectrum of topics including new technologies, applications, and research to showcase the most compelling genetics and genomics science of the year. Exhibits will be open from November 6th to 8th.
Oxford Nanopore will be located at booth 203, and will host an Industry Education Session, two CoLabs, on-booth activities, and an off-site evening event. Register to confirm your spot at our events!
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Industry Education Session
Bridging the gap: Discover what you're missing with comprehensive and accessible genomic research
Location: Rooms 109/111/113
Date: Thursday, November 7th
Time: 12:00 pm — 1:00 pm MT
Why choose between depth and accessibility? Oxford Nanopore's sequencing technology empowers researchers to deliver high-resolution insights while scaling across diverse populations and single-cell studies. This year’s talks will showcase how nanopore sequencing can uncover complex genetic variations and transcriptomic diversity—critical for advancing both global precision health and single-cell RNA research—by addressing gaps that traditional methods have left behind.
Dr. Carlos D. Bustamante from Galatea Bio, Inc. will highlight how our PromethION system is advancing clinical-grade population genetics and rare disease diagnostics. His work with the Consortium on Asthma among African-ancestry Populations (CAAPA) provides key insights into the genetic diversity of underserved populations. He will also present benchmarking data for clinical whole genome sequencing and discuss how nanopore sequencing enhances the detection of structural variations, including those related to Familial Hypercholesterolemia.
Next, Dr. Rui Chen from the University of California, Irvine, will reveal how long-read RNA sequencing is unlocking the complexity of the retina. His team’s profiling of 30,000 retinal cells has identified novel transcript isoforms, offering new insights into alternative splicing that could transform our understanding of retinal diseases.
To conclude, Rosemary Sinclair Dokos, SVP of Product and Programme Management at Oxford Nanopore Technologies, will showcase the latest technological advancements that enable real-time, high-accuracy sequencing of genetic variation and methylation across a single multiomics platform. Join us to see how nanopore sequencing is pushing the boundaries of genomic discovery.
Agenda
12:00 pm - 1:00 pm MT | Talk title | Speaker |
|---|---|---|
12:00 pm - 12:05 pm | Welcome and introductions | Cora Vacher, Oxford Nanopore Technologies |
12:05 pm - 12:20 pm | Single-cell RNA-seq with long-read RNA sequencing | Rui Chen, University of California, Irvine |
12:25 pm -12:40 pm | Enabling precision health at scale using Oxford Nanopore sequencing | Carlos Bustamante, Galatea Bio Inc. |
12:45 pm - 1:00 pm | Updates from Oxford Nanopore | Rosemary Dokos, Oxford Nanopore Technologies |
Speakers
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Single-cell RNA-seq with long-read RNA sequencing
Rui Chen, Principal Investigator, University of California, Irvine
Dr. Chen, a professor at the Gavin Herbert Eye Institute - Center for Translational Vision Research ...
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Updates from Oxford Nanopore
Rosemary Sinclair Dokos, Senior VP, Product and Programme Management, Oxford Nanopore Technologies
Senior VP, Product and Programme Management, Oxford Nanopore Technologies Biography Rosemary Sinclai...
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Enabling precision health at scale using Oxford Nanopore sequencing
Carlos Bustamante, Founder and CEO, Galatea Bio, Inc.
A Venezuelan born entrepreneur, Dr. Carlos Bustamante (Galatea Bio - CEO / Co-Founder) is one of the...
CoLabs
Oxford Nanopore will be hosting two CoLabs at the ASHG 2024 annual meeting. CoLabs are 30-minute sessions hosted in the exhibit hall to showcase offerings from our industry experts and thought leaders. View session details below and register to attend.
Scalable long-read enrichment and phamacogenomic analysis with Oxford Nanopore Technologies
Location: CoLab Theater 2
Date: Wednesday, November 6th
Time: 2:30 pm — 3:00 pm MT
Pharmacogenomics (PGx) analysis is necessary to understand how an individual is going to respond to a drug. In the future, comprehensive PGx will provide tailored choices for patient treatment, dosage and will help avoid adverse reactions. Some complex genetic regions, such as the CYP2D6 locus however have remained difficult to resolve using traditional methods of analysis. CYP2D6 is a particularly important pharmacogene, as it is involved in metabolizing 20-25% of drugs.
Oxford Nanopore Technologies has partnered with Twist Bioscience to optimise the capture and analysis of the 49 genes targeted in the Twist Alliance Long-Read PGx Panel. In this CoLab presentation, Tina Han, Director of Applications and Business Development at Twist Bioscience, will present an end-to-end Oxford Nanopore-compatible hybrid capture workflow that allows scalable sequencing with sufficient coverage for up to 8 samples on GridION and 48 samples on PromethION. Then Scott Hickey, Director of Genomics Applications, will present Adaptive Sampling, Oxford Nanopore Technologies’ proprietary approach to enrichment. He will showcase how we accurately genotyped PGx panels and assembled CYP2D6 on 92 patient-derived cell lines with known variants and will introduce our bioinformatic tool, Chinook, which excels in reconstructing the CYP2D6 locus and ensures 100% concordance in PGx gene sequencing with the EPI2ME pipeline, compatible with either targeted method.
Telomere-to-telomere genome assembly using nanopore long and ultra-long reads
Location: CoLab Theater 1
Date: Thursday, November 7th
Time: 4:00 pm — 4:30 pm MT
In this CoLab presentation, Sean McKenzie, Associate Director of Genomic Applications Bioinformatics, will demonstrate how to use nanopore sequencing as a cost-effective method for genome assembly. By combining improved nanopore ultra-long read accuracy with the innovative HERRO algorithm for pre-assembly read correction, we will show how you can construct a telomere-to-telomere (T2T) assembly backbone with just two flowcells of nanopore ultra-long reads using the Verkko assembler.
With nanopore Pore-C data for long-range phasing, our approach surpasses previous multi-technology methods. Most human chromosomes can be assembled T2T without manual intervention, significantly reducing costs and lab work. This streamlined method makes T2T genome assemblies more accessible and feasible for widespread adoption, paving the way for advanced genomic research.
On-booth activities
Wednesday, November 6th | Thursday, November 7th | Friday, November 8th |
|---|---|---|
10:30 am — Single cell demo: Individual cells matter Carly Tyer, Oxford Nanopore Technologies | 9:45 am — Data for Breakfast - Nanopore sequencing tackles challenging genes Phill James, Oxford Nanopore Technologies | 9:45 am — Data for Breakfast - Many samples to answers: scaling up long-read WGS projects with nanopore sequencing and EPI2ME wf-human-variation Bryan Leland, Oxford Nanopore Technologies |
1:00 pm — ElysION: from sample to analysis, end-to-end nanopore sequencing on a single device Steph Wilbraham, Oxford Nanopore Technologies | 12:30 pm — Single cell demo: Individual cells matter Carly Tyer, Oxford Nanopore Technologies | |
3:30 pm — Large-scale comprehensive Nanopore sequencing identifies regulatory loci driven by structural variants in diverse Human Brains Melissa Meredith, Graduate Student Researcher, Computational Genomics Lab, UC Santa Cruz | 3:30 pm — EPI2ME demo: Comprehensive germ line variant calling and 5mC/5hmC detection with wf-human-variation Bryan Leland, Oxford Nanopore Technologies | 3:30 pm — EPI2ME Demo: Analyzing full-length transcripts with wf-single-cell Kushal Suryamohan, Oxford Nanopore Technologies |
Posters and presentations featuring nanopore sequencing
Evening reception
Join Oxford Nanopore at our evening reception!
Time: 8:00 pm ~ 12:00 am MT
Date: Thursday, November 7th
Venue: 1134 Broadway
Location: 1134 N Broadway, Denver, CO 80203
Our waitlist for this event has reached capacity. If you have already registered or joined the waitlist, you will receive a confirmation email from events@nanoporetech.com.
Please note, you will need an ASHG badge to attend the reception. Attendees must be age 21+.
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