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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: 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: 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: 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: 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

Whitepaper: Structural variation in the human genome

Structural variation accounts for much of the variation among human genomes. Structural variants of all types are known to cause Mendelian disease and contribute to complex disease. Learn how long-read sequencing is enabling detection of the full spectrum of structural variants to advance the study of human disease, evolution and genetic diversity.

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Thursday, January 7, 2021

Technical Note: Preparing samples for PacBio whole genome sequencing for de novo assembly – Collection and storage

Single Molecule, Real-Time (SMRT) Sequencing uses the natural process of DNA replication to sequence long fragments of native DNA. As such, starting with high-quality, high molecular weight (HMW) genomic DNA (gDNA) will result in better sequencing performance across difficult to sequence regions of the genome. To obtain the highest quality, long DNA it is important to start with sample types compatible with HMW DNA extraction methods. This technical note is intended to give general guidance on sample collection, preparation, and storage across a range of commonly encountered sample types used for SMRT Sequencing whole genome projects. It is important to…

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