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.

Scientists from PacBio and Zymo Research will present state-of-the art HiFi metagenomic sequencing solutions that will enable microbiome researchers to make important discoveries that are not only high-impact but more precise, reproducible, and resource-efficient than ever.

Effective carrier and newborn screening methods are critical for solving problems in reproductive medicine and launching treatment plans for early-onset genetic diseases. Clinical research faces a number of well-known challenges to disentangle the complexity of the underlying disease genetics. In this exciting webinar, PacBio scientists will showcase new HiFi sequencing solutions developed to accelerate high-impact discovery in carrier and newborn screening research, including Paraphase, a state-of-the-art software tool for analyzing SMN1/SMN2 and other genes with stunning accuracy.

The PacBio MAS-Seq for 10x Single Cell 3’ kit provides a 16-fold throughput increase on PacBio’s sequencing systems, enabling isoform resolution for single cell transcriptomics. In this tutorial, we demonstrate how to use PacBio’s SMRT Link software to analyze MAS-Seq single cell data to produce gene- and isoform-level count matrices that can be used with tertiary analysis tools such as Kana, Seurat, and CellTypist for cell clustering and cell labeling. For more information on PacBio single-cell isoform informatics, visit https://isoseq.how

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.

The Revio long-read sequencer introduces long reads at a lower cost and higher throughput. The Onso short-read sequencer delivers short reads with near-perfect accuracy. Combined, the completeness of long reads with the accuracy of short reads provides the most comprehensive view of genomes, transcriptomes, and epigenomes.

Gene therapy is at an inflection point and experiencing tremendous growth. High accuracy and complete visibility are critical to the success of novel vector discovery, vector design, and manufacturing quality control for gene therapy products. This webinar illustrates why PacBio HiFi sequencing is the ideal solution due to its ability to sequence full length AAV genomes at high accuracy, which allows for detection of fragmentation, mutations, and large structural events. Short reads, qPCR, and less accurate long-read technology can miss important changes that may be present in the AAV sequence, potentially affecting the safety and efficacy of gene therapy products.

Learn how to cost-effectively level up your metagenomics research from expert bioinformaticians. PacBio HiFi sequencing is setting a new standard for quality and resolution in metagenome sequencing thanks to significant strides in data analysis tools. New pipelines that leverage HiFi sequencings unique combination of high accuracy and long read length yield low abundance species at a higher rate, with higher resolution and precision, and return more circular, single contig metagenome-assembled genomes (MAGs).

Follow two scientists on their journey of discovery using whole genome sequencing and single-cell RNA sequencing to shed light on previously unresolved medical mysteries. In this video, they share how they have been able to successfully identify the genetic drivers in disease research by accessing the complete genomic landscape, including regions previously deemed impossible to sequence.

To pioneer the future through biology, you have to look beyond the status quo and see the whole picture. At PacBio, we are devoted to empowering your vision, by delivering trustworthy technologies and the highest accuracy data. Our mission is to enable the promise of genomics to better human health. We create the world’s most advanced sequencing systems that provide the insights scientists need to improve our understanding of biology. We proudly support and collaborate with the scientific community as we work together to reveal the full potential of the genome. We strive to miss nothing, so you can do anything.

In this talk, Dr. Elizabeth Tseng demonstrates a throughput increase for the scIso-Seq method by concatenating single-cell molecules, increasing yield a minimum of 6-fold per SMRT Cell 8M. She explains the bioinformatics workflow for analyzing concatenated scIso-Seq data, which begins with de-concatenation, followed by tagging of UMI and barcode information that can be processed by the isoseq3 pipeline for deduplication. Reads are then aligned against the reference genome, followed by SQANTI3 for transcript classification against a reference annotation (ex: GENCODE) which produces an isoform-level sparse matrix to be analyzed with single-cell tools such as Seurat. She also shows how to apply isoform-level phasing using a tool called IsoPhase, by first calling SNPs based on the deduplicated aligned reads, then using the full-length read information to identify the haplotypes, and finally assigning each isoform-haplotype its associated read counts. Since each read can be associated with its distinct cell type, this allows quantifying isoform expressions in an allele-specific and cell type-specific manner. Finally, she shows how this can be visualized using both standard genome browsers like IGV and long read-aware tools such as SWAN.

The COVID-19 pandemic continues to be a major global epidemiological challenge with the ongoing emergence of new strain lineages that are more contagious, more virulent, drug-resistant, and in some cases evade vaccine-induced immunity. In response, the HiFiViral SARS-CoV-2 kit was developed as a scalable solution for the Sequel II and Sequel IIe Systems. Unlike amplicon sequencing, the HiFiViral SARS-CoV-2 kit uses tiled probes, resulting in robust genome coverage across varying viral input quantities despite the presence of new variants. The use of highly accurate long reads, or HiFi reads, enables comprehensive variant detection, including single nucleotide variants, indels, and structural variants, as well as phasing of variants if multiple strains are present in samples. The fully kitted solution contains all reagents needed for viral enrichment and barcoding up to 384 samples, which can be pooled in a single SMRTbell library and run on a single SMRT Cell 8M. The add-only workflow requires two days in the lab with overnight sequencing and analysis and may be automated to achieve a turnaround time of 24 hours. SMRT Link analysis includes variant calling, HiFi read depth plots, the detection of multiple strains in samples, and consensus sequences ready for submission to public databases. In the talk, Dr. Sarah Kingan, demonstrates performance across a broad range of sample Ct, the accuracy of our variant calling method for viral controls, including variants of concern, and the ability to detect multiple variants down to 20% minor frequency. HiFiViral for SARS-CoV-2 is a cost-effective, convenient, and accurate method for viral sequencing, well-suited for scalable surveillance of a rapidly evolving virus to inform public health decision making.

In this talk, Dr. Aaron Wenger, describes how PacBio HiFi reads (15 kb - 25 kb, >99.9% accuracy) provide the most complete view of human genetic variation, including small variants in difficult-to-map regions and structural variants genome-wide. Further, PacBio sequencing simultaneously detects epigenetic modifications without requiring a specialized library preparation step like bisulfite conversion. This ability is commonly used to characterize epigenetic marks in bacterial genomes. Recent improvements in read length and data analysis have extended the ability to include the 5mC methylation that is present at CpG sites in human genomes. Using a deep learning model that integrates sequencing kinetics and base context, the accuracy of 5mC detection in humans for individual HiFi reads is around 80%. Combining multiple reads, the concordance to EMseq and bisulfite sequencing reaches around 90%. The single-molecule resolution of methylation, together with phasing from accurate long reads, allows the detection of allele-specific methylation patterns such as parental imprinting. This ability to detect bases and modifications allows HiFi sequencing to provide the most complete genome and epigenomes with a single technology and library preparation.

Pharmacogenomics (PGx) utilizes genomic information to assess an individual’s response to certain medications and can be used to predict adverse drug reactions or decreased efficacy. While numerous assays and genetic tests have been developed to interrogate pharmacogenes, several limitations exist, including lack of phasing information, and poor detection in complex regions with structural variants, pseudogenes, or gene conversions. In this talk, Dr. Nina Gonzaludo, describes amplicon and targeted enrichment capture SMRT Sequencing workflows that generate HiFi reads for high resolution of PGx alleles. To fully resolve CYP2D6, a highly polymorphic gene in a region with extensive homology, she discusses an amplicon strategy that resulted in ≥99.9% accuracy per sequencing run and >99% demultiplexed on target reads to CYP2D6. Additionally, results show improved haplotyping accuracy over orthogonal technologies in a set of 22 reference samples. Separately, she discusses preliminary results from a panel enrichment strategy for high resolution genotyping and phasing of 43 clinically significant pharmacogenes. These approaches can be leveraged as cost-effective and highly accurate methods for advancing PGx research and discovery.

With the September 2021 closing of PacBio’s acquisition of Omniome, PacBio intends to become the first company to offer both long-read and short-read sequencing platforms. What does this mean for customers? How is PacBio leadership thinking about delivering a differentiated set of products and applications into high-growth clinical markets? In this intimate conversation with genomics leaders, Christian Henry, and Richard Shen, they share their vision for the future as a combined company.