Hear from PacBio customers
Discover how neurodegenerative disease researchers are utilizing full-length isoform sequencing to uncover new biological insights.
ON-DEMAND WEBINAR
Long-read RNA neurology symposium
Explore new RNA sequencing solutions
Learn about new and upcoming kits for PacBio HiFi sequencing that enable bulk and single-cell transcriptome research at extraordinary resolution.
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WEBINAR SUMMARY
In this virtual symposium, hear from a variety of researchers who are using the PacBio Iso-Seq method for bulk and single-cell transcriptomics to drive cutting-edge research in neurology, neurodegenerative diseases, and brain development. Learn more about the MAS-Seq for 10x Single Cell 3’ kit and get a sneak preview of the upcoming MAS-Seq for bulk Iso-Seq kit. Come see how long-read HiFi sequencing provides extraordinary discovery power for uncovering new insights in RNA biology.
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SESSION 1
Powering RNA research and developmental brain biology
10:00 – 11:30 AM PDT | 1:00 – 2:30 PM EDT | 6:00 – 7:30 PM BST
Speakers
High-throughput full-length isoform sequencing for bulk & single-cell transcriptome
Elizabeth Tseng, PhD, Associate Director, Product Marketing, PacBio
@Magdoll
Moving towards a resolved atlas of cell type isoforms in the human cortex
Andy Yang, MSc candidate, Icahn School of Medicine at Mount Sinai
Long-read RNA-seq of human microglia reveals novel isoforms and elucidates genetic regulation of splicing associated with Alzheimer's and Parkinson's disease
Jack Humphrey, PhD, Instructor, Icahn School of Medicine at Mount Sinai
@JackHumphrey_
Cell-type-specificity of isoform diversity in the developing human neocortex informs mechanisms of neurodevelopmental disorders
Michael Gandal, PhD, Hetznecker Associate Professor of Psychiatry, University of Pennsylvania
@mikejg84
BREAK
Visualizing Iso-Seq data with Shiny app
11:30 – 11:45 AM PDT | 2:30 – 2:45 PM EDT | 7:30 – 7:45 PM BST
Speaker
Khi Pin Chua, PhD, Senior Scientist, PacBio
@khipinchua
SESSION 2
Driving translational research in neurodegenerative disease
11:45 AM – 12:30 PM PDT | 2:45 – 3:30 PM EDT | 7:45 – 8:30 PM BST
Speakers
Single-cell isoform sequencing in neurodegenerative disease
Anis Shahnaee, PhD candidate, Sanford Burnham Prebys Medical Discovery Institute
@AShahnaee
Unravelling the role of transcript expression in neurodegenerative disease: insights from long-read RNA sequencing
Emil Gustavsson, PhD, Postdoctoral Research Fellow, University College London
SESSION 3
Open discussion with all speakers
12:30 – 1:00 PM PDT | 3:30 – 4:00 PM EDT | 8:30 – 9:00 PM BST
Moderators
Elizabeth Tseng, PhD, Associate Director, Product Marketing, PacBio
@Magdoll
Nina Gonzaludo, PhD, Senior Manager, Segment Marketing, PacBio
Plenary talks
Scalable PacBio HiFi library prep for high-quality genome assemblies
Authors: Jacob Brandenburg, Aaron Wenger, Christine Lambert, Heather Ferrao
Long-read whole genome sequencing (WGS) for plants and animals has allowed scientists to tackle the assembly of genomes ranging in size, ploidy, and repeat content. HiFi WGS enables complete, accurate, and contiguous assemblies of even the most complex genomes. As a result, HiFi WGS has been adopted by many biodiversity genomics consortia and agriculture researchers to assemble thousands of genomes.
While HiFi WGS simplifies the bioinformatics of genome assembly, library preparation remains a common challenge, especially for scientists sequencing organisms which yield low quantities of DNA or have very large genomes that require multiple libraries for a single de novo assembly.
We describe a new workgow using the PacBio SMRTbell prep kit 3.0 that is amenable to automation while significantly reducing the time (by 50%), cost, and DNA quantity (by 40%) necessary to prepare a sequencing library. We applied the workflow to rice and fly samples and demonstrate that the assembly quality matches that of the previous, more time-consuming library prep workgows. This new workflow offers a more efficient solution for all WGS applications, regardless of organism size or complexity.
bioinformatics tools for HiFi plant pangenomes
Authors: Greg Concepcion, Michelle Vierra
Greg Concepcion, Staff Engineer, Bioinformatics, PacBio
With the increasing prevalence of high-quality assembled genomes, access to the pangenomes of species is now an achievable possibility for researchers with all research budgets. However, the tools to visualize, analyze, and extract actionable information from these pangenome datasets are still in their infancy. Using a large plant pangenome dataset, we evaluated the pangenome graph builder pipeline for building a pangenome graph of the species and use these evaluations to provide basic recommendations for how to best manipulate and visualize these pangenomic datasets with other downstream tools including the vg toolkit.
bioinformatics tools for HiFi plant pangenomes
Authors: Greg Concepcion, Michelle Vierra
Greg Concepcion, Staff Engineer, Bioinformatics, PacBio
With the increasing prevalence of high-quality assembled genomes, access to the pangenomes of species is now an achievable possibility for researchers with all research budgets. However, the tools to visualize, analyze, and extract actionable information from these pangenome datasets are still in their infancy. Using a large plant pangenome dataset, we evaluated the pangenome graph builder pipeline for building a pangenome graph of the species and use these evaluations to provide basic recommendations for how to best manipulate and visualize these pangenomic datasets with other downstream tools including the vg toolkit.
bioinformatics tools for HiFi plant pangenomes
Authors: Greg Concepcion, Michelle Vierra
Greg Concepcion, Staff Engineer, Bioinformatics, PacBio
With the increasing prevalence of high-quality assembled genomes, access to the pangenomes of species is now an achievable possibility for researchers with all research budgets. However, the tools to visualize, analyze, and extract actionable information from these pangenome datasets are still in their infancy. Using a large plant pangenome dataset, we evaluated the pangenome graph builder pipeline for building a pangenome graph of the species and use these evaluations to provide basic recommendations for how to best manipulate and visualize these pangenomic datasets with other downstream tools including the vg toolkit.
Presentations
Monday, June 12, 2022 14:15–15:45 PST
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Elizabeth Tseng, PhD
Title, credentials, PacBio
Elizabeth Tseng, PhD
Title, credentials, PacBio
Elizabeth Tseng, PhD
Title, credentials, PacBio
Elizabeth Tseng, PhD
Title, credentials, PacBio
Presentations + posters
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Poster presentations
# Title First Author Date/Time 2314 Increased Diagnostic Yield With Long Read Sequencing In Patients With Undiagnosed Neurodevelopmental Disorder S. Jamuar October 26, 3:00 - 4:45 pm PDT 2322 Long-read HiFi genome sequencing reveals a 2.7 kilobase intronic insertion in NR5A1as a cause of 46,XY disorder of sexual development G. Del Gobbo October 26, 3:00 - 4:45 pm PDT 2354 Ultra-low DNA input with long-read sequencing identified complex chromosomal rearrangements involving NIPBL in a Cornelia de Lange syndrome patient N. Jiang October 26, 3:00 - 4:45 pm PDT 2723 Accurate CYP2D6 star (*) allele diplotyping for long-read PacBio HiFi sequencing J. Harting October 26, 3:00 - 4:45 pm PDT 3096 PacBio HiFi sequencing provides highly accurate CpG methylation calls without bisulfite treatment C. Saunders October 26, 3:00 - 4:45 pm PDT 3133 Sequencing By Binding (SBB) enables a lower limit of detection for Tuberculosis resistance genes gyrA and katG C. Wike October 26, 3:00 - 4:45 pm PDT 2269 Clinical long-read genome sequencing: Analytical performance of germline small variant detection using HiFi genome sequencing N. Hammond October 27, 3:00 - 4:45 pm PDT 2954 De novo variant detection with HiFi reads J. Lake October 27, 3:00 - 4:45 pm PDT 3012 High throughput workflow for human whole genome sequencing using PacBio HiFi J. Rocha October 27, 3:00 - 4:45 pm PDT 3132 Sequencing By Binding (SBB) demonstrates superior performance in low-pass whole-human-sequencing applications KY. Chen October 27, 3:00 - 4:45 pm PDT 2938 Closing the gap: Solving complex medically relevant regions of the human genome F. Sedlazeck October 27, 3:00 - 4:45 pm PDT -
In-booth presentations
# Title First Author Date/Time 2314 Increased Diagnostic Yield With Long Read Sequencing In Patients With Undiagnosed Neurodevelopmental Disorder S. Jamuar October 26, 3:00 - 4:45 pm PDT 2322 Long-read HiFi genome sequencing reveals a 2.7 kilobase intronic insertion in NR5A1as a cause of 46,XY disorder of sexual development G. Del Gobbo October 26, 3:00 - 4:45 pm PDT 2354 Ultra-low DNA input with long-read sequencing identified complex chromosomal rearrangements involving NIPBL in a Cornelia de Lange syndrome patient N. Jiang October 26, 3:00 - 4:45 pm PDT 2723 Accurate CYP2D6 star (*) allele diplotyping for long-read PacBio HiFi sequencing J. Harting October 26, 3:00 - 4:45 pm PDT 3096 PacBio HiFi sequencing provides highly accurate CpG methylation calls without bisulfite treatment C. Saunders October 26, 3:00 - 4:45 pm PDT 3133 Sequencing By Binding (SBB) enables a lower limit of detection for Tuberculosis resistance genes gyrA and katG C. Wike October 26, 3:00 - 4:45 pm PDT 2269 Clinical long-read genome sequencing: Analytical performance of germline small variant detection using HiFi genome sequencing N. Hammond October 27, 3:00 - 4:45 pm PDT 2954 De novo variant detection with HiFi reads J. Lake October 27, 3:00 - 4:45 pm PDT 3012 High throughput workflow for human whole genome sequencing using PacBio HiFi J. Rocha October 27, 3:00 - 4:45 pm PDT 3132 Sequencing By Binding (SBB) demonstrates superior performance in low-pass whole-human-sequencing applications KY. Chen October 27, 3:00 - 4:45 pm PDT 2938 Closing the gap: Solving complex medically relevant regions of the human genome F. Sedlazeck October 27, 3:00 - 4:45 pm PDT
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