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Thursday, November 2 | 12:30 – 1:30 PM EDT Walter E. Washington Convention Center, Room 150 A/B, Level 1
Join us for an exciting workshop that delves into the forefront of genomics research! Discover how innovative researchers are leveraging the extraordinary accuracy and comprehensive coverage of HiFi sequencing to drive groundbreaking insights into the intricate world of genetic variation, RNA splicing, and epigenetic gene regulation.
Dr. Gloria Sheynkman will discuss how she uses full-length RNA isoform sequencing to gain a deeper understanding of how proteomic variation underlies phenotypic variation and disease states.
Dr. Andrew Stergachis will describe how he applies HiFi sequencing to provide explanations to unsolved cases in the Undiagnosed Disease Network by simultaneously performing comprehensive variant detection, methylation analysis, chromatin accessibility, and RNA splicing all in a single sequencing run!
Our workshop is designed to foster engagement and collaboration, providing you with an opportunity to interact with leading experts in the field and explore the practical applications of HiFi sequencing in your own research endeavors.
Please register today. Box lunches will be provided for this session.
Jonas Korlach, PhD
Chief Scientific Officer, PacBio
Talk Title: PacBio – a year in review and a glimpse into tomorrow
Andrew Stergachis, PhD
Assistant Professor of Medicine and Genome Sciences, University of Washington
Talk Title: Multi-ome long-read sequencing for resolving Mendelian conditions
Gloria Sheynkman, PhD
Assistant Professor of Molecular Physiology and Biophysics, University of Virginia
Talk Title: Deep, high-accuracy full-length transcriptomics across populations and cells for finding disease context of protein isoforms
Date/Time: Thursday, November 2 | 10:10 – 10:40 AM EDT
Location: Walter E. Washington Convention Center, Exhibit Hall, CoLab Theater #2
Alexander Hoischen, PhD
Assistant Professor, Radboud University Medical Centre
PacBio HiFi long-read sequencing has the potential to become a single front-line assay for interrogating rare disease cohorts because of its ability to accurately call and phase all classes of variants. An international group of clinical researchers and PacBio have been collaborating to study the efficacy of HiFi sequencing in interrogating the many possible genetic mechanisms that underlie rare diseases. This presentation will provide an overview of the group’s goals and activities and will share recent results, particularly around correctly resolving clinically relevant genes that lie in areas of high sequence homology or otherwise complex regions of the human genome.
Date/Time: Friday, November 3 | 10:10 – 10:40 AM EDT
Location: Walter E. Washington Convention Center, Exhibit Hall, CoLab Theater #2
David Porubsky, PhD
Post-Doctoral Fellow, University of Washington, Eichler Lab
Zev Kronenberg, PhD
Senior Manager, Computational Biology, PacBio
Accurate long-read sequencing characterizes the full spectrum of genetic variation across the genome, but variant calling software is still catching up to the sequencing technologies. We have generated deep Pacific Biosciences (PacBio) high-fidelity (HiFi), ultra-long Oxford Nanopore Technologies (ONT), Strand-seq, and Illumina whole-genome sequencing data to construct near-T2T, phased genome assemblies from primary material obtained from a 4-generation, 28-member CEPH pedigree (1463). We are constructing a more comprehensive and validated catalog of >8 million single-nucleotide variants, indels, short tandem repeats, and structural variants, including a detailed assessment of inversion polymorphisms that associate with disease risk. The use of multiple orthogonal technologies, near-T2T phased-genome assemblies, and a multi-generation family allow us to assess inheritance patterns and to create a “truth set” for all classes of human genetic variation upon which to test and benchmark new technologies.
Thursday, November 2 – Saturday, November 4
| # | Title | First Author | Date/Time |
| 3070 | Genome-wide characterization of de novo tandem repeat mutations in the human genome | T. Mokveld | Thurs., Nov. 2 3:00 – 5:00 PM |
| 3334 | Building the spectrum of ground truth genetic variation in a four-generation 21-member CEPH family | Z. Kronenberg | Thurs., Nov. 2 3:00 – 5:00 PM |
| 3397 | HiPhase: jointly phasing small and structural variants from HiFi sequencing | J. Holt | Thurs., Nov. 2 3:00 – 5:00 PM |
| 3393 | High-throughput human sample prep and sequencing on PacBio Revio system | D. Moine | Sat., Nov. 4 2:15 – 4:15 PM |
| 3396 | High-throughput full-length isoform sequencing with long, accurate reads | E. Tseng | Sat., Nov. 4 2:15 – 4:15 PM |
| 4569 | Unveiling hidden transcripts using a T2T human reference genome | J. Kim | Sat., Nov. 4 2:15 – 4:15 PM |
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