This webinar, presented by Nisha Pillai, provides an overview of bioinformatics approaches for PacBio Single Molecule, Real-Time (SMRT) Sequencing data and discusses the whole genome sequencing application including: assembly workflow designs, an overview analysis tools for de novo assembly of SMRT Sequencing data (HGAP4, FALCON & FALCON-Unzip), and finally best practices and case studies.
This webinar highlights global initiatives currently underway to use Single Molecule, Real-Time (SMRT) Sequencing to de novo assemble genomes of individuals representing multiple ethnic populations, thereby extending the diversity of available human reference genomes. In their presentations, Tina Graves-Lindsay from Washington University and Adam Ameur from Uppsala University spoke about diploid assemblies, discovering novel sequence and improving diversity of the current human reference genome. Finally, Paul Peluso of PacBio presented data from the recent effort to sequence a Puerto Rican genome and shared a SMRT Sequencing technology roadmap showing the next several upgrades for the Sequel System.
The lack of diversity in genomic data has been an issue of growing concern. It threatens to limit the benefits from the massive investment that has been made to date to transform biomedical research, drug development, and the clinical care of patients. We spoke to Jonas Korlach, chief scientific officer of Pacific Biosciences, about the problem, how it’s being addressed, and the role advancing technology can play in gleaning greater insights from the genomes that are analyzed.
This tutorial provides an overview of the PacBio Demultiplex Barcodes analysis application in SMRT Link, followed by de novo assembly of the demultiplexed samples using HGAP4 for the Multiplexed Microbial Assembly analysis application. This tutorial covers features of SMRT Link v5.1.0.
The Iso-Seq method enables the sequencing of transcript isoforms from the 5’ end to their poly-A tails, eliminating the need for transcript reconstruction and inference. This webinar provides a comprehensive guide to Iso-Seq method data analysis, bioinformatics, and review key applications.
Long-read sequencing technologies like Iso-Seq analysis present researchers with a powerful tool for probing the transcriptomes of many species. The ability to sequence transcripts from end-to-end has revealed transcription complexity on a scale that was previously impossible. This sequence rich information has also improved our ability to predict transcript functions and biotypes. Researchers can now use Iso-Seq analysis to discover transcript models in almost any species with an accuracy on par with human and mouse annotations. In this webinar, Richard Kuo discusses the core concepts behind Iso-Seq analysis and how to use it to improve or build a new transcriptome…
This webinar, presented by Nisha Pillai, provides an overview of amplicon sequencing to target specific regions of a genome using PacBio Single Molecule, Real-Time (SMRT) Sequencing. This session provides an overview of bioinformatics approaches for PacBio amplicon analysis including circular consensus sequencing and long amplicon analysis.
Jonas Korlach closes the 2018 User Group Meeting with an outlook and perspectives on SMRT Sequencing, highlighting what possibilities the Sequel System 6.0 release. Learn more about this release at: https://www.pacb.com/products-and-services/sequel-system/latest-system-release/
PacBio sequencing has been recognized as the gold-standard in microbial sequencing due to simultaneously providing long sequence reads (genome contiguity), high consensus accuracy (genome accuracy), minimal sequence bias (genome completeness), and methylation detection (bacterial epigenome). In his talk Jonas Korlach, highlights new advances and updates on applying PacBio sequencing in microbiology, including multiplexed microbial sequencing on the Sequel System and full-length bacterial RNA sequencing. In the second part of his talk, he covers how the generation of high-accuracy, single-molecule consensus reads, through a process called circular consensus sequencing – a capability unique to PacBio sequencing technology – can be leveraged…
In this PacBio User Group Meeting presentation, Bruce Kingham of the DNA Sequencing & Genotyping Center at the University of Delaware describes tips on using the FEMTO Pulse for large-insert libraries.
In this presentation Fritz Sedlazeck describes his latest work to obtain comprehensive genomes leveraging long-read sequencing and linked reads.
In this PacBio User Group Meeting presentation, Tina Graves-Lindsay of the McDonnell Genome Institute and the Genome Reference Consortium speaks about the importance of phasing human reference genomes. Her team is now working on its fifteenth human genome assembly — part of a major effort to improve genomic representation of ethnic diversity — with a pipeline that generates 60-fold PacBio coverage for a de novo assembly, followed by scaffolding with other technologies. They are also using FALCON-Unzip to separate haplotypes, leading to reference-grade diploid assemblies. This approach has already helped resolve errors seen in other genomes and even the gold-standard…
In this ASHG workshop presentation, Janet Song of Stanford School of Medicine shared research on resolving a tandem repeat array implicated in bipolar disorder and schizophrenia. These psychiatric diseases share a number of genomic risk variants, she noted, but scientists continue to search for a specific causal variant in the CACNA1C gene suggested by previous genome-wide association studies. SMRT Sequencing of this region in 16 individuals identified a series of 30-mer repeats, containing a total of about 50 variants. Analysis showed that 10 variants were linked to protective or risk haplotypes. Song aims to study the function of these variants…
PacBio Customers present their latest research in short talks at our User Group Meeting. The applications presented span the range of SMRT Sequencing applications from users from around North America.
In this presentation, Sonja Vernes of the Max Plank Institute shares her work with the Bat1K project which aims to catalog the genetic diversity of all living bat species. She highlights the unique biology of bats, from their widely varying sizes to their capacity for healthy aging and disease resistance and provides recent findings from ongoing efforts to sequence and annotate the genomes of 21 phylogenetic families of bats.