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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: 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: 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: 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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Thursday, January 7, 2021

Application Brief: Targeted sequencing for amplicons – Best Practices

With Single Molecule, Real-Time (SMRT) Sequencing and the Sequel System, you can easily and cost effectively generate highly accurate long reads (HiFi reads, >99% single-molecule accuracy) from genes or regions of interest ranging in size from several hundred base pairs to 20 kb. Target all types of variation across relevant genomic regions, including low complexity regions like repeat expansions, promoters, and flanking regions of transposable elements.

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Thursday, January 7, 2021

Application Brief: Variant detection using whole genome sequencing with HiFi reads – Best Practices

With highly accurate long reads (HiFi reads) from the Sequel II System, powered by Single Molecule, Real-Time (SMRT) Sequencing technology, you can comprehensively detect variants in a human genome. HiFi reads provide high precision and recall for single nucleotide variants (SNVs), indels, structural variants (SVs), and copy number variants (CNVs), including in difficult-to-map repetitive regions.

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Thursday, January 7, 2021

Application Brief: Structural variant detection using whole genome sequencing – Best Practices

With the Sequel II System powered by Single Molecule, Real-Time (SMRT) Sequencing technology and SMRT Link v8.0, you can affordably and effectively detect structural variants (SVs), copy number variants, and large indels ranging in size from tens to thousands of base pairs. PacBio long-read whole genome sequencing comprehensively resolves variants in an individual with high precision and recall. For population genetics and pedigree studies, joint calling powers rapid discovery of common variants within a sample cohort.

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