Oxford Nanopore to showcase what you’re missing matters when investigating disease enabled by nanopore sequencing at the American Society of Human Genetics

Our packed agenda will highlight how the Oxford Nanopore platform can generate richer data revealing enhanced biological insights not possible with short read sequencing – or other sequencing platforms – to accelerate research into human disease.

At the 75th annual American Society of Human Genetics (ASHG) conference in Washington, DC, Oxford Nanopore Technologies will showcase that what you’re missing matters in human genetics, unveiling how nanopore sequencing is enabling researchers to gain richer insights through analysis of native DNA coupled with any-length reads beyond traditional genomics.

Presentations by the Oxford Nanopore team and nanopore customers will demonstrate how nanopore sequencing is revealing more powerful information about underlying causes of disease by enabling information-rich, rapid and accessible genetic analysis at scale. Full comprehensive mapping of the human genome, telomere-to-telomere (T2T), is now possible using only nanopore sequencing having previously been assembled with multiple sequencing technologies.

Rosemary Sinclair Dokos, SVP of product and programme management, will provide an update on the growing portfolio of products and solutions to support users in scaling nanopore sequencing. This includes TurBOT, Oxford Nanopore’s benchtop automated sample preparation, offering automated extraction and library preparation, coupled with sequencing, basecalling, and data analysis for single or multiple samples to provide sample to answer workflows, all through one click and one intuitive user interface.

Our goal is to simplify sequencing and analysis workflows. Rosemary will present Oxford Nanopore’s one point-and-click analysis workflow for human genomics using EPI2ME, our proprietary secondary analysis software. This will seamlessly integrate with tertiary analysis tools from leading partners, including Saphetor and Geneyx, to support a range of clinical application workflows.

The Oxford Nanopore team will be represented on booth #203 from the 1st - 5th November and will host a wide range of sessions, from booth demos to CoLab presentations, and more.

Key highlights include:

• Industry education session

• CoLabs presentations

• Booth demos

• Data for Breakfast

• Evening Reception

Follow us on twitter @nanopore for updates and news throughout the conference. For more information please see: ASHG events page.

Agenda:

Time and Place	Session	Speakers
Industry Education Sessions
Friday, November 3rd
12:30 – 12:40 Room 143AB	A complete picture of the genome, finally	Cora Vacher, Oxford Nanopore
12:40 – 13:00 Room 143AB	Combination of ONT WGS with short read based WGS sets new standards in routine clinical testing.	Lucy Kaplun, Variantyx
13:00 – 13:20 Room 143AB	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
13:20 – 13:30 Room 143AB	Oxford Nanopore update	Rosemary Dokos, Oxford Nanopore
CoLabs
Thursday, November 2nd, 15:45 - 16:15 CoLab Theater 1	Single sample, haplotype-resolved genetic and epigenetic variation calling using nanopore sequencing	Philipp Rescheneder, Oxford Nanopore
Friday, November 3rd, 15:00 - 15:30 CoLab Theater 1	Oxford Nanopore: Delivering on the promise and future of genetic and genomic medicine	James Brayer,Oxford Nanopore
Booth Demos
Thursday, November 2nd
10:30 Booth #203	Loading a flow cell	Jess Anderson & Carly Tyer, Oxford Nanopore
11:00 Booth #203	Loading a flow cell	Jess Anderson & Carly Tyer, Oxford Nanopore
11:00 Booth #203	TurBOT — from sample to analysis, end-to-end nanopore sequencing on a single device.	Steph Wilbraham, Oxford Nanopore
12:30 Booth #203	PCR-free, flexible enrichment of a comprehensive gene panel	Jess Anderson & Carly Tyer, Oxford Nanopore
14:00 Booth #203	Scalable nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation	Pilar Alvarez Jerez, NIH, National Institute on Aging
Friday, November 3rd
12:30 Booth #203	PCR-free, flexible enrichment of a comprehensive gene panel	Jess Anderson & Carly Tyer, Oxford Nanopore
4:30 Booth #203	Library recovery, washing and reloading a flow cell	Jess Anderson & Carly Tyer, Oxford Nanopore
4:00 Booth #203	Tertiary analysis demo
	Library recovery, washing and reloading a flow cell	Jess Anderson & Carly Tyer, Oxford Nanopore
Data for Breakfast
Friday, November 3rd, 10:15 Booth #203	Human variation with nanopore sequencing: Repeat expansions and beyond	Phill James, Oxford Nanopore
Saturday, November 4th, 10:15 Booth #203	Targeted pharmacogenetic sequencing with Nanopore adaptive sampling	Lynn Ly, Oxford Nanopore
Evening Reception
Friday, November 3rd, 19:30 - 23:00 dLeña, 476 K St NW Suite D, Washington, DC 20001	Join Oxford Nanopore at our evening reception!	Registration required. Must be 21+.

Please note that registration is required for some sessions and the evening reception due to limited space. Your place will be confirmed by an email from events@nanoporetech.com. Attendees must have an ASHG badge to attend the reception. You can register via the ASHG events page.

Presentations at ASHG 2023 featuring nanopore sequencing

THURSDAY 2ND NOVEMBER

Session: 011 (8:30-10:00)

Room: Conv Ctr/Room 207A/Level 2

• 9:15- 9:30 Break-induced replication mediated by inverted repeats underlie formation of pathogenic inverted triplications. Christopher Grochowski (Baylor College Medicine, US)

Session: 014 (8:30-10:00)

Room: Conv Ctr/Ballroom B/Level 3

• 9:00-9:15 Integrative analysis of rare structural variants from long- and short-read sequencing and transcriptomic signals reveals novel determinants of undiagnosed mendelian disease. Bohan Ni (Johns Hopkins University, US)

• 9:15-9:30 MECP2 copy number variants studied by multiple approaches reveal impact of genomic structure to disease variability. Jesse Bengtsson (Pacific Northwest Research Institute, US)

Session: 016 (10:45-12:15)

Room: Conv Ctr/Room 207A/Level 2

• 11:00-11:15 Haplotype characterisation using short- and long-read sequencing data of a protective region of segmental duplication for Alzheimer disease in African carriers of APOEε4. Luciana Bertholim Nasciben (University of Miami, US)

SATURDAY 4TH NOVEMBER

Session: 098 (10:30-12:00)

Room: Conv Ctr/Room 207A/Level 2

• 10:45-11:00 Driver project for advancing long-read de novo genome assembly methods in clinical research. Emmanuele Delot (Childrens National Research Institute, US)

• 11:45-12:00 Detection and characterisation of repeat expansions in patients with neurodevelopmental disorders using short- and long-read sequencing. Indhu Shree Rajan Babu (The University of British Columbia, Canada)

Session: 101 (10:30-12:00)

Room: Conv Ctr/Ballroom A/Level 3

• 10:45-11:00 Diagnostic utility of genome-wide DNA methylation screening to identify molecular causes of genetically unsolved developmental and epileptic encephalopathies. Christy Laflamme (St. Jude Children's Research Hospital, US)

• 11:45-12:00 Transcriptome profiling of paediatric extracranial solid tumours enables rapid, low-cost diagnostic classification. Kofi Opoku (University of North Carolina at Chapel Hill, US)

In the poster hall

THURSDAY 2ND NOVEMBER (15:00-17:00)

• PB2210: A comparison of whole-genome bisulfite sequencing and Oxford Nanopore Technology for epigenetic studies. Darwin Tay (Nanyang Technological University, Singapore)

• PB3421: Long-read single-cell whole-genome sequencing from human brains. Christos Proukakis (University College London, UK)

• PB3466: Scalable nanopore long-read sequencing to resolve complex regions in Parkinson's disease. Abigail Miano-Burkhardt (National Institutes of Health, US)

• PB4680: Characterization of a chromosome 5q35 Alzheimer disease risk locus in African Ancestry families using short- and long-read whole genome sequencing. Derek Van Booven (University of Miami, US)

• PB5107: Karyotype prediction in paediatric acute leukaemias using long-read sequencing. John Lin (University of North Carolina at Chapel Hill, US)

FRIDAY 3rd NOVEMBER (15:00-17:00)

• PB1004: A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus. Matt Danzi (University of Miami, US)

• PB1007: A high-resolution view of human gene expression and splicing diversity with long-read sequencing. Stephanie Yan (Johns Hopkins University, US)

• PB2055: A novel basic carrier test for all ethnicities using long-read sequencing and an artificial intelligence platform. Chris Kyriakidis (gMendel ApS, Denmark)

• PB2199: Targeting and comprehensive characterisation of pharmacogenes using Oxford Nanopore Technologies’ adaptive sampling. Carly Tyer (Oxford Nanopore Technologies, US)

• PB3068: Genetic landscape of HLA in the Emirati population enabled by long-read Oxford Nanopore whole-genome sequencing. Javier Quilez Oliete (G42 Healthcare, United Arab Emirates)

• PB3190: Detection of putative dilated cardiomyopathy causing germline variants and DNA methylation by nanopore sequencing. Yen-Yen Wang (McGill University, Canada)

• PB3193: Development of a region-specific enrichment and long-read sequencing strategy to phase de novo mutations in human genetic disease. Jared Graham (University of Colorado Anschutz Medical Campus, US)

• PB3250: Nanopore long-read sequencing analysis in patients with congenital malformations and balanced chromosomal abnormalities. Hiroaki Murakami (Gifu Prefectural General Medical Center, Japan)

• PB3347: Comparison of structural variant calls from Oxford Nanopore haplotype resolved and telomere-to-telomere genome assemblies. Sean Mckenzie (Oxford Nanopore Technologies, US)

• PB3443: Nanopore adaptive sampling combines both targeted and low-pass whole-genome sequencing in a single assay. Sissel Juul (Oxford Nanopore Technologies, US)

• PB3467: Scalable nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Mikhail Kolmogorov (National Institutes of Health, US)

• PB5072: Haplotype-resolved multi-modal analysis of cancer genomes using Oxford Nanopore sequencing. Philipp Rescheneder (Oxford Nanopore Technologies, UK)

SATURDAY 4TH NOVEMBER (14:15-16:15)

• PB4524: Long-read sequencing of 1000 Genomes Project samples to catalogue normal patterns of human genome structural variation. Jonas Gustafson (University of Washington, US)

• PB5133: Performance of somatic structural variant calling in lung cancer using Oxford Nanopore sequencing technology. Lingchen Liu (QIMR Berghofer Medical Research Institute, Australia)

• PB5115: Methylation detection in cancer cells with long read sequencing technology. Jia Zhang (QIMR Berghofer Medical Research Institute, Australia)