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To fulfill the promise of cancer precision medicine, we need to better understand the complex biology of cancer. Join us at AACR to discover how highly accurate long- and short-read sequencing from PacBio allows you to uncover novel isoforms, fusions, and structural variants with exceptional accuracy.
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More comprehensive DNA and RNA variant detection with accurate long- and short-read sequencing
Monday, April 8 | 12:30 – 1:30 PM PT Spotlight Theater A - Sails Pavilion
Our ability to confidently detect somatic variants in cancer via DNA and RNA sequencing has been limited by traditional sequencing technologies. To characterize all types of somatic mutations including small variants, structural variants, RNA isoforms, and fusions, you need accurate and comprehensive sequencing tools.
In this session, you will learn how PacBio long reads enable researchers to explore the complete genome and transcriptome, while highly accurate short reads lower the limit of detection for very rare variants in applications like liquid biopsy.
Hiroyuki Mano, MD, PhD
Director, National Cancer Research Institute, Japan
Talk title: Multi-dimensional genomic/epigenomic/transcriptomic analyses of highly infiltrative malignancies
Midhat Farooqi, MD, PhD
Director of Molecular Oncology, Children's Mercy Kansas City
Talk title: Long-read sequencing of pediatric leukemia identifies clinically relevant genomic rearrangements
Alex Sockell, PhD
Manager, Cancer Genomics, PacBio
Talk title: Improved liquid biopsy assay performance using highly accurate sequencing by binding (SBB)
Jonathan Bibliowicz, PhD
Associate Director, Cancer Genomics, PacBio
Host and moderator
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.
| Poster | Title | Presenter | Time |
| Abstract #2443 | Section 41, poster 8 | Improved detection of low frequency mutations in ovarian and endometrial cancers by utilizing a highly accurate sequencing platform | Alex Sockell, PhD | 9:00 AM - 12:30 PM |
| Abstract #2432 | Section 40, poster 28 | Improved liquid biopsy assay performance using sequencing by binding (SBB) | Alex Sockell, PhD | 9:00 AM - 12:30 PM |
| Abstract #2934 | Section 14, poster 9 | Somatic variant workflow with HiFi sequencing provides new insights in highly challenging cancer cases | Khi Pin Chua, PhD | 1:30 - 5:00 PM |
Stop by our booth and chat directly with PacBio staff who will be on hand to answer your questions.
Booth hours:
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