In this PacBio User Group Meeting presentation, Zev Kronenberg of PacBio presents on using the combination of PacBio and Phase Genomics data and analysis tools to create highly contiguous genome assemblies.
In this webinar, Jonas Korlach, PacBio Chief Scientific Officer, and Dave Corney, Associate Principal Scientist, Next Generation Sequencing from GENEWIZ, describe the recent release of Sequel System 6.0, which has revolutionized long-read sequencing by providing users the ability to generate highly accurate single-molecule reads. Users no longer need to compromise read length for accuracy, because it is now possible to have both including Sanger-quality reads as long as 15 kb. They share the benefits in applications such as whole genome sequencing, structural variant detection, targeted sequencing and RNA sequencing of full-length transcripts using the Iso-Seq method. From those new to…
PacBio CSO, Jonas Korlach, kicks off the North America 2018 User Group Meeting with a recap of how SMRT Sequencing has evolved and a preview of the Sequel System 6.0 release. Learn more about this release at: https://www.pacb.com/products-and-services/sequel-system/latest-system-release/
This tutorial provides an overview of the Structural Variant Calling application in SMRT Link and a live demo of how to launch an analysis in SMRT Link and interpret the results. This application identifies large (default: = 20 bp) insertions, deletions, inversions and translocations in a sample relative to a reference from.This tutorial covers features of SMRT Link v6.0.0.
This tutorial provides an overview of the Isoform Sequence (Iso-Seq) analysis application. The Iso-Seq application provides reads that span entire transcript isoforms, from the 5′ end to the 3′ poly A-tail. Generation of accurate, full-length transcript sequences greatly simplifies analysis by eliminating the need for transcript reconstruction to infer isoforms using error-prone assembly of short RNA-seq reads. This tutorial covers features of SMRT Link v6.0.0.
In this PacBio User Group Meeting presentation, Tim Smith of the USDA’s Agricultural Research Service describes efforts to generate reference-grade genome assemblies for various bovine species and analyze them to understand factors such as how selective breeding has affected certain breeds. Genome assemblies he presents span cattle, water buffalo, and gaur. Smith shows data for each assembly, noting that as data production shifted to the Sequel System, long-read PacBio data became even better at producing highly contiguous assemblies.
Jonas Korlach kicks off Day 2 of the 2018 User Group Meeting by discussing a recent collaboration and technique for low-input starting material and high quality de novo assembly projects. While new and not yet fully supported, many researchers have interest in starting with lower amounts of DNA for whole genome sequencing. This protocol requires Express Kit v2, which will be available in early 2019.
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/
In this webinar, Lori Aro and Cheryl Heiner of PacBio describe how high-throughput amplicon sequencing using Single Molecule, Real-Time (SMRT) Sequencing and the Sequel System allows for the easy and cost-effective generation of high-fidelity, long reads from amplicons ranging in size from several hundred base pairs to 20 kb. Topics covered include the latest advances in SMRT Sequencing performance for detection of all variant types even in difficult to sequence regions of the genome, multiplexing options to increase throughput and improve efficiency, and examples of amplicon sequencing of clinically relevant targets.
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.
In this presentation Fritz Sedlazeck describes his latest work to obtain comprehensive genomes leveraging long-read sequencing and linked reads.
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, Justin Blethrow provides an overview of recent and upcoming developments across PacBio’s SMRT Sequencing product portfolio, and their implications for PacBio’s major applications. In presenting the product roadmap, he illustrates how key new products coming in 2019 will make SMRT Sequencing dramatically more affordable and easy to use, and how they will enable customers to routinely produce highly accurate, single-molecule long reads.
In this ASHG workshop presentation, Stuart Scott of the Icahn School of Medicine at Mount Sinai, presented on using the PacBio system for amplicon sequencing in pharmacogenomics and clinical genomics workflows. Accurate, phased amplicon sequence for the CYP2D6 gene, for example, has allowed his team to reclassify up to 20% of samples, providing data that’s critical for drug metabolism and dosing. In clinical genomics, Scott presented several case studies illustrating the utility of highly accurate, long-read sequencing for assessing copy number variants and for confirming a suspected medical diagnosis in rare disease patients. He noted that the latest Sequel System…