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Friday, April 9, 2021

Creating Core Demand with HiFi Sequencing

In this video, Dave Miller from PacBio and Alvaro Hernandez PhD from the University of Illinois Urbana- Champaign discuss how to create Core Lab demand using PacBio highly accurate long-read, or HiFi, sequencing.

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Friday, April 9, 2021

The Long and Short of Sequencing – Why HiFi Reads are the Future 

PacBio Sequencing and software enable the generation of highly accurate (>99.9%) long reads. HiFi reads are accurate, essential, affordable, and can be used across a range of applications, including detection of all variant types, from single nucleotides to structural variants. PacBio’s end-to-end solutions feature library preparation paired with push-button analysis to support numerous workflows so you can run projects quickly and easily.

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Wednesday, March 24, 2021

AGBT Presentation: Increasing the Solve Rate of Rare and Undiagnosed Genetic Diseases with HiFi Sequencing

In this talk, Jonas Korlach, PhD, Chief Scientific Officer at PacBio describes how using PacBio HiFi reads, which are greater than 99.9% accurate and up to 25 kb long, led to the detection of structural variants in examples of previously unexplained rare genetic diseases. Genetic diseases affect as much as 10% of the population and over 50% of cases currently remain unexplained. Similarly, Mendelian diseases include over 8,500 described disorders, however at present ~40% have an unknown genetic cause. In addition, he highlights the strength of complete, phased, high-accuracy human WGS for simultaneously yielding high-quality information about any other locus…

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Wednesday, March 24, 2021

PacBio Sequencing for SARS-CoV-2 Surveillance

In this video Jonas Korlach, PacBio Chief Scientific Officer, shares how PacBio is partnering with LabCorp to use highly accurate long-read sequencing in support of global efforts for genome surveillance of SARS-CoV-2. Dr. Korlach describes the benefits of the HiFiViral for SARS-CoV-2 Workflow for delivering complete viral genomes as well as variant detection successes made to date using the workflow. Learn more about the HiFiViral for SARS-CoV-2 Workflow at https://pacb.com/COVID-19

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Friday, February 26, 2021

Genomic Architecture of the KIR and MHC-B and -C Regions in Orangutan

PacBio 2013 User Group Meeting Presentation Slides: Lisbeth Guethlein from Stanford University School of Medicine looked at highly repetitive and variable immune regions of the orangutan genome. Guethlein reported that “PacBio managed to accomplish in a week what I have been working on for a couple years” (with Sanger sequencing), and the results were concordant. “Long story short, I was a happy customer.”

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Friday, February 26, 2021

A comparison of 454 GS FLX Ti and PacBio RS in the context of characterizing HIV-1 intra-host diversity.

PacBio 2013 User Group Meeting Presentation Slides: Lance Hepler from UC San Diego’s Center for AIDS Research used the PacBio RS to study intra-host diversity in HIV-1. He compared PacBio’s performance to that of 454® sequencer, the platform he and his team previously used. Hepler noted that in general, there was strong agreement between the platforms; where results differed, he said that PacBio data had significantly better reproducibility and accuracy. “PacBio does not suffer from local coverage loss post-processing, whereas 454 has homopolymer problems,” he noted. Hepler said they are moving away from using 454 in favor of the PacBio…

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Friday, February 26, 2021

The use of PacBio and Hi-C data in de novo assembly of the goat genome.

Generating de novo reference genome assemblies for non-model organisms is a laborious task that often requires a large amount of data from several sequencing platforms and cytogenetic surveys. By using PacBio sequence data and new library creation techniques, we present a de novo, high quality reference assembly for the goat (Capra hircus) that demonstrates a primarily sequencing-based approach to efficiently create new reference assemblies for Eukaryotic species. This goat reference genome was created using 38 million PacBio P5-C3 reads generated from a San Clemente goat using the Celera Assembler PBcR pipeline with PacBio read self-correction. In order to generate the…

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Friday, February 26, 2021

Old school/new school genome sequencing: One step backward — a quantum leap forward.

As the costs for genome sequencing have decreased the number of “genome” sequences have increased at a rapid pace. Unfortunately, the quality and completeness of these so–called “genome” sequences have suffered enormously. We prefer to call such genome assemblies as “gene assembly space” (GAS). We believe it is important to distinguish GAS assemblies from reference genome assemblies (RGAs) as all subsequent research that depends on accurate genome assemblies can be highly compromised if the only assembly available is a GAS assembly.

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Friday, February 26, 2021

Progress on the reassembly and annotation of the goat genome.

The goat (Capra hircus) remains an important livestock species due to the species’ ability to forage and provide milk, meat and wool in arid environments. The current goat reference assembly and annotation borrows heavily from other loosely related livestock species, such as cattle, and may not reflect the unique structural and functional characteristics of the species. We present preliminary data from a new de novo reference assembly for goat that primarily utilizes 38 million PacBio P5-C3 reads generated from an inbred San Clemente goat. This assembly consists of only 5,902 contigs with a contig N50 size of 2.56 megabases which…

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