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Friday, January 15, 2021

Virtual Global Summit: Using the unique capabilities of the Sequel II System for de novo genome assembly and full-length 16S sequencing

In this PacBio Virtual Global Summit 2020 presentation, Alvaro Hernandez of University of Illinois at Urbana-Champaign shares his experience introducing the Sequel II System to the DNA Sequencing facility at his institution. Hernandez also goes over recommendations to ensure high-quality de novo genome assemblies and benefits of full-length 16S sequencing, compared to the sequencing of variable regions.  Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: Third generation sequencing for diagnosis of rare disease

In this PacBio Virtual Global Summit 2020 presentation, Neil Miller of Children’s Mercy Hospital in Kansas City describes how third generation sequencing offers sensitive single nucleotide variant detection, variant phasing and the ability to detect large structural variants and complex genomic events which may provide utility in the diagnosis of rare disease. This talk will discuss the use of PacBio HiFi whole genome sequencing in the Genomic Answers for Kids program at Children’s Mercy, Kansas City and how these data are being used to search for disease causing variants in cases that have remained unsolved after clinical exome and whole…

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Friday, January 15, 2021

Virtual Global Summit: Long-range PCR meets long-read sequencing: Tandem technologies for tackling the toughest genes in carrier screening

In this PacBio Virtual Global Summit 2020 presentation, Gary Latham of Asuragen shares how high-prevalence carrier genes associated with disorders such as Fragile X Syndrome, SMA, and Hemophilia include GC-rich repeats, complex structural variants, and/or pseudogenes can derail conventional sequencing methods. Latham reviews these challenges and presents a solution that integrates novel PCR chemistry with SMRT Sequencing to create a unified workflow for carrier screening. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: HIT-scISOseq – High-throughput and high-accuracy single-cell full-length isoform sequencing

In this PacBio Virtual Global Summit 2020 presentation, Tang Chong of BGI shares work on how single-cell isoform sequencing can reveal transcriptomic dynamics in individual cells invisible to bulk- and single-cell RNA analysis based on short-read sequencing. However, current long-read single-cell sequencing technologies have been limited by low throughput and high error rate. Chong introduces HIT-scISOseq for high-throughput single-cell isoform sequencing. This method was made possible by full-length cDNA capture using biotinylated PCR primers, and by a novel library preparation procedure that combines head-to-tail concatemeric full-length cDNAs into a long SMRTbell insert for high-accuracy PacBio Sequencing. HIT-scISOseq represents a high-throughput,…

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Friday, January 15, 2021

Virtual Global Summit: Elucidating the origin of grapevine agronomic traits with PacBio genome assembly and Iso-Seq analysis

In this PacBio Virtual Global Summit 2020 presentation, Pablo Carbonell of the Max-Planck-Institute shares his work using PacBio long reads and a trio approach, to produce fully phased genome assemblies of grapevine cultivars. Combining the assemblies with Iso-Seq analysis, they were able to identify differential isoform and allelic expression related to variation in relevant agronomic traits. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: The HiFi sequencing advantage for metagenome assembly

In this PacBio Virtual Global Summit 2020 presentation, Meredith Ashby of PacBio shares how researchers are using PacBio HiFi sequencing to overcome common challenges in microbiome research, including ambiguous taxonomic assignments and culture-resistant bacteria. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: Anopheles and the journey from a reference genome to a thousand genomes to spatiotemporal genomic observatories

In this PacBio Virtual Global Summit 2020 presentation, Mara Lawniczak of the Sanger Institute shares how generating reference genome has a transformative and immeasurable impact on the study of a species. A prime example of this is the journey of the past 18 years since the first Anopheles reference genome was sequenced. Anopheles mosquitoes are of particular interest to both medical research and evolutionary biologists because of their role in transmitting all human malaria and because of their notoriously porous species boundaries. Lawniczak described various projects ranging from population genomics on hundreds of wild caught specimens from across Africa including…

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Friday, January 15, 2021

Virtual Global Summit: Adventures towards error-free genomes

In this PacBio Virtual Global Summit 2020 presentation, Jennifer Balacco of the Vertebrate Genome Lab at Rockefeller University describes experiences and findings towards pursuing error-free genomes at the Vertebrate Genome Lab. This includes sample prep tips and an example of a VGP high-quality reference genome generated from a museum specimen. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: Telomere-to-telomere sequencing and evolution of complex regions of the human genome

In this PacBio Virtual Global Summit 2020 presentation, Evan Eichler of the University of Washington discusses approaches to apply long-read sequencing to generate complete telomere-to-telomere assembly of chromosomes. Eichler focuses on complex regions of structural variation and new biological insights from comparative analyses. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: HiFi – Amazing Applications in Plant Genomes and Human Disease Research

In this PacBio Virtual Global Summit 2020 presentation, Jeremy Schmutz of HudsonAlpha Institute describes applications for PacBio HiFi sequencing to detect structual variations and assembly human genomes, as well as for de novo assembly of plant species with complex genomes. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: Reliable nucleotide, indel, and structural variant detection in diverse populations

In this PacBio Virtual Global Summit 2020 presentation, Shawn Levy of Discovery Life Sciences shares work on how the ability to reliably detect and characterize the spectrum of sequence variants observed in the human genome is critical for understanding the role of mutation and variation in genetic risk and phenotype. Levy describes how scaled CCS analysis on the Sequel II System supports efficient and reliable detection of complex and simple variants in diverse populations with high accuracy. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: DeepVariant – Accurate variant calling with PacBio HiFi data

In this PacBio Virtual Global Summit 2020 presentation, Pi-Chuan Chang of Google shares how DeepVariant identifies SNPs and Indels in PacBio HiFi data, starting from the v0.8 release (April 2019). In her talk, Chang details recent accuracy improvements that won the PrecisionFDA Truth Challenge v2, which are now available in the latest release (v1.0 in September 2020). Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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Friday, January 15, 2021

Virtual Global Summit: Shining Light On An Elusive Bug – A comparative metagenome-assembled genome analysis of “Candidatus Lachnocurva vaginae”, formerly known as Bacterial Vaginosis Associated Bacterium – 1 (BVAB1)

In this PacBio Virtual Global Summit 2020 presentation, JoAnna Holm of the University of Maryland shares her work on Bacterial Vaginosis Associated bacterium 1 (BVAB1), an as-yet uncultured bacterial species found in the human vagina that belongs to the family Lachnospiraceae within the order Clostridiales. Using the PacBio Sequel II System the first circularized metagenome-assembled genome (cMAG) of BVAB1 of this species has been produced, allowing for proper phylogenetic placement of the species in its own genus “Candidatus Lachnocurva vaginae” and genomic analysis to better understand its pathogenicity. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-trademarks/

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