Explore PacBio’s educational videos

The Revio system adds affordability, high throughput, and ease of use to a foundation of long reads, exceptional accuracy and direct methylation detection.

The Onso system is an innovative benchtop short-read DNA sequencing platform with an unprecedented level of accuracy using PacBio sequencing by binding (SBB) technology. Ultra-high Q40+ data quality allows you to break through limits of detection.

This workshop 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.

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 greater than 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.

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 provides an overview of the group’s goals and activities and 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.

Higher throughput and lower costs for highly accurate long-read (HiFi) sequencing are now available on the Revio system. HiFi sequencing enables you to capture all variant types with high precision and recall, phase haplotypes, and identify methylation patterns across the genome. Dr. Adam Ameur of SciLifeLab in Uppsala, Sweden, has implemented the Revio system to create new discovery opportunities for a range of HiFi sequencing applications, including whole-genome sequencing in human genomic research.

In this webinar, PacBio scientists Nancy Francoeur, PhD and Caroline Storer, PhD will help you understand Revio performance metrics and on-instrument analysis options to put you in control of your HiFi sequencing runs. Primary run QC metrics in SMRT Link let you evaluate sequencing performance, monitor performance trends, and understand how sample loading affects HiFi sequencing quality and yield. Watch this webinar to find out more about: HiFi sequencing primary run QC metrics and terminology. Interpretation of key metrics and visualizations to evaluate sequencing performance. Revio system on-instrument analysis pipelines, output files, and folder structure.

Gain a deep understanding of the unique advantages that HiFi sequencing brings to the table, empowering you to make informed decisions that can significantly impact the safety and efficacy of gene therapy products. In this exciting webinar, Edward Oakeley, PhD, Novartis, shares and explains his experience and the developments of the HiFi AAV genome sequencing method over time and how his group has developed a modified library preparation protocol to maximize the usefulness of PacBio HiFi reads for AAV characterization. The modified library prep protocol includes adding an additional step for the synthesis of a complementary second strand in order to capture a greater variety of AAV molecules in the analysis.

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 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. Discover how long-read HiFi sequencing provides extraordinary discovery power for uncovering new insights in RNA biology.

Experience a new era of short-read sequencing accuracy with the Onso system. In this illuminating video, Candice Wike, Ph.D., from the Translational Genomics Research Institute (TGen), part of City of Hope, joins Product Marketer Young Kim in Menlo Park. During their conversation they take us on a journey through the remarkable world of TGen’s research and highlights the game-changing potential of this advanced technology.

TGen, located in Phoenix, AZ, is a nonprofit biomedical research institute focused on precision medicine in areas such as oncology, pathogens and infectious diseases, rare childhood disorders, and neurological disorders.

In discussing her experience with PacBio’s Onso system, Dr. Wike highlights the system's exceptional accuracy, spotlighting its capacity to detect ultra-low variants with unprecedented precision. The significance of this accuracy is emphasized as she discusses the beauty of mapped reads and the statistical power they offer, enabling the detection of variants at an astonishingly low frequency of 0.001%.

She also explains how the high accuracy from the technology’s sequencing by binding (SBB) chemistry, reduces the need for complex library prep methods and intricate downstream bioinformatics pipelines in the short-read sequencing space. With the PacBio Onso system, researchers like Dr. Wike can trust that the data they see is a direct representation of their findings, removing the need for additional error correction processes. Beyond the technical intricacies, Dr. Wike discusses PacBio’s collaboration with TGen and how Onso, with its ability to detect variants at such high accuracy, will enable TGen to continue asking the questions that push the boundaries of precision medicine.

Join Dr. Vorasuk Shotelersuk as he shares his journey, from the inception of his work at the Center of Excellence for Medical Genomics in Chulalongkorn University. He sheds light on how PacBio HiFi sequencing helps discover genetic variants in rare and undiagnosed diseases afflicting his patients and will play a part in the future of genomics in Thailand.

During this exciting webinar, Fritz Sedlazeck, PhD from Baylor College of Medicine and Kiran Garimella, PhD from the Broad Institute and All of Us program explain how HiFi long-read sequencing is energizing the potential of population genomics by enabling scientists to catalogue all genetic variation, reflecting a population’s true diversity, and maximize discovery potential to enable the most accurate insights possible.

Reconstructing complete phased genomes is key to understanding the genetic basis of many complex traits. However, the bioinformatic complexity of long-range phasing creates a pressing need for streamlined, efficient computational approaches that can reconstruct high-quality, chromosome-scale phased sequences at scale. Highly accurate long reads from PacBio (HiFi reads) are well suited for haplotype-resolved assemblies of human, non-human, and cancer genomes. With the right bioinformatics tools, HiFi data enables high-quality phased genome assembly to examine structural variant landscapes, characterize cancer-related mutations, and facilitate new, unbiased studies of haplotype variation.

Full-length, single-cell RNA data provides critical insights into the understanding of cancer transcriptomic features, such as isoforms, fusions, and expressed mutations. However, until recently, cell typing based on gene expression has been challenging with long reads due to insufficient sequencing depth. In a recent preprint, Dondi et al. (2022) used transcript concatenation and highly accurate long-read sequencing (HiFi sequencing) to increase sequencing depth. This increase enabled cell type identification without needing short reads, and the detection of many new isoforms. They also detected fusions, cell-specific and cell type-specific isoform usage, and revealed differential isoform expression in tumor and mesothelial cells. The authors conclude that “future studies with similar or increased long-read throughput will not have to rely on parallel short-read sequencing, thereby saving cost and labor.”

In this webinar Arthur Dondi discusses:

• Detection of cell type-specific known and novel isoforms
• Capture and quantification of full-length isoforms, mutations and fusions in the same scRNA-seq dataset
• Detection of a gene fusion that was misclassified in matched short-read data

Con este seminario web descubrirá como las secuencias largas y de alta precisión le ayudarán a lograr nuevos descubrimientos en sus investigaciones, y cómo el nuevo sistema Revio está revolucionado el mundo de la secuenciación genómica.