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Tuesday, October 27, 2020

ASHG CoLab: PacBio HiFi reads for comprehensive characterization of genomes and single-cell isoform expression

In this ASHG 2020 CoLab presentation hear Principal Scientists, Aaron Wenger and Elizabeth Tseng share how highly accurate long reads (HiFi reads) provide comprehensive variant detection for both genomes and transcriptomes. Aaron Wenger describes how new improvements in protocols and analysis methods have increased scalability and accuracy of variant calling. As demonstrated in the precisionFDA Truth Challenge V2, HiFi reads (>99% accurate, 15 kb – 20 kb) now outperform short reads for single nucleotide and structural variant calling and match for small indels. This includes calling >30,000 small variants and >10,000 structural variants missed by short reads, many in medically…

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Sunday, October 25, 2020

ASHG PacBio Workshop: A future of high-quality genomes, transcriptomes, and epigenomes

Jonas Korlach spoke about recent SMRT Sequencing updates, such as latest Sequel System chemistry release (1.2.1) and updates to the Integrative Genomics Viewer that’s now update optimized for PacBio data. He presented the recent data release of structural variation detected in the NA12878 genome, including many more insertions and deletions than short-read-based technologies were able to find.

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Sunday, October 25, 2020

Video: Structural variant detection with SMRT Sequencing

In this video, Aaron Wenger, a research scientist at PacBio, describes the use of long-read SMRT Sequencing to detect structural variants in the human genome. He shares that structural variations – such as insertions and deletions – impact human traits, cause disease, and differentiate humans from other species. Wenger highlights the use of SMRT Sequencing and structural variant calling software tools in a collaboration with Stanford University which identified a disease-causing genetic mutation.

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Sunday, October 25, 2020

ASHG PacBio Workshop: PacBio applications updates & future roadmap

In this ASHG 2017 presentation, Jonas Korlach, the CSO of PacBio shared updates on three applications featuring SMRT Sequencing on the Sequel System, highlighting structural variant detection, targeted sequencing and the Iso-Seq method of RNA sequencing. He provided details on structural variant calling using pbsv to call insertions and deletions and compared PacBio variant calling with other technologies. Korlach described how targeted sequencing can be used to interrogate repeat expansions, detect and phase minor variants and can access medically relevant but previously inaccessible gene targets. He presented research featuring the Iso-Seq method that identified isoforms, corrected previous isoform annotations and…

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Sunday, October 25, 2020

Podcast: Huh? 30 million Americans have a rare disease? Howard Jacob on the state of clinical sequencing

Howard Jacob, Chief Genomics Officer at the HudsonAlpha Institute for Biotechnology, explored the role of genomics in diagnosing rare diseases. In this podcast he shared his views on the economics of clinical sequencing and how long-read sequencing is advancing the ability to sequence an individual’s genome –de novo– and use structural variant calling to make clinical diagnoses. He concluded with the hurdles limiting adoption of clinical sequencing and his vision for the future of genomic medicine.

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Sunday, October 25, 2020

ASHG PacBio Workshop: PacBio product updates and roadmap – announcing the release of new chemistry and software

In this ASHG workshop presentation , Jonas Korlach, CSO of PacBio, walked attendees through recent product updates and the coming technology roadmap. The Sequel System 6.0 release offered major improvements to accuracy, throughput, structural variant calling, and large-insert libraries, he said, showing examples of 35 kb libraries. Looking ahead, Korlach said that the V2 express library preparation product should be available early in 2019, with the new 8M SMRT Cell being introduced sometime later.

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Sunday, October 25, 2020

Tutorial: Iso-Seq analysis application [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.

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Sunday, October 25, 2020

PAG Conference: How SMRT Sequencing is accelerating plant and animal genomics

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.

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Sunday, October 25, 2020

ASHG PacBio Workshop: The Iso-Seq method for discovering alternative splicing in human diseases

In this ASHG workshop presentation, Elizabeth Tseng of PacBio showed how the Iso-Seq method can be used to discover disease-associated alternative splicing. Because this approach to isoform sequencing yields accurate, full-length transcripts requiring no assembly, it’s ideal for disease studies that need a more comprehensive picture of alternative splicing activity. Tseng offered several published examples of how the Iso-Seq method has been used for everything from single-gene studies to whole-transcriptome studies, and also detailed how the latest Sequel System chemistry recovers more genes and produces more usable reads.

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Sunday, October 25, 2020

Tutorial: Structural variant calling [SMRT Link v6.0.0]

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.

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Sunday, October 25, 2020

Webinar: Bioinformatics lunch & learn – Command line analysis with Cromwell in PacBio SMRT Link v8.0

In this webinar, Matthew Seetin a PacBio Bioinformatics Field Application Scientist, presents one of the biggest engineering changes in SMRT Link v8.0 – the migration from pbsmrtpipe to Cromwell. With this change, a number of new features particularly suited for pipeline engineers and production facilities are now available for use. Learn from our BFX FAS to see how you can best take advantage of this new, versatile and scalable platform. Topics covered include: What is Cromwell and how does it help you? New features including data caching and job restart, and guidance for building custom workflows combining PacBio & 3rd…

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