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Sunday, October 25, 2020

PAG PacBio Workshop: Using PacBio reads and pbjelly software to improve genomes – a cost-effective approach to finishing

Kim Worley from Baylor’s Human Genome Sequencing Center describes the improvement of the sooty mangabey primate genome. Sooty mangabey is a model organism for HIV research, since this particular primate can be infected with the immunodeficiency virus and never develop any symptoms. Worley and her team used PacBio long reads in conjunction with their own assembly tool, PBJelly, closing 64% and improving another 19% of the gaps.

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Sunday, October 25, 2020

AGBT Virtual Poster: Mind the gap – upgrading reference genomes with Pacific Biosciences RS long read sequencing technology

Adam English, lead bioinformatics programmer at Baylor College of Medicine, discusses challenges with resolving gaps in high-quality draft genome assemblies. Sequencing biases, repetitive genomic features, genomic polymorphism, and other complicating factors all come together to make some regions difficult or impossible to assemble. For more facile assembly and automated finishing of draft genomes, he presents an automated approach to finishing using long reads from the PacBio System. The tool PBJelly automates the finishing process using long sequence reads in a reference-guided assembly process. Using PBJelly and SMRT Sequencing, they upgraded the draft genome sequences of a simulated Drosophila melanogaster, the version…

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Sunday, October 25, 2020

Seminar: Optimizing eukaryotic de novo genome assembly with long-read sequencing

This seminar features great hands-on information and best practices for analyzing SMRT Sequencing data for eukaryotic genome assembly. Michael Schatz provides an overview of the assembly tools, provides recommendations for when to use each one, and discusses the challenges of short-read assemblies. James Gurtowski gives an in-depth overview of hybrid assemblies methods, where short read data are used used to correct errors in longer reads. Finally, Sergey Koren presents on chromosome-scale assembly, including the MinHash Alignment Process (MHAP) he developed to dramatically reduce the computational processing power required for genome assemblies.

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Sunday, October 25, 2020

ASHG Conference: String graph assembly for diploid genomes with long reads

Jason Chin, senior director of bioinformatics at PacBio, talks about using long-read sequence data and string graph assembly for assembling diploid genomes. A major challenge for diploid genome assembly is in distinguishing homologous regions from repeats, so he discusses how long reads are essential for resolving repeat regions. In the presentation, Chin displays data from two inbred Arabidopsis strains used to create a synthetic diploid assembly.

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Sunday, October 25, 2020

ASHG PacBio Workshop: Highlighting unexplored genomic regions with SMRT Sequencing – informatics for structural event detection in PacBio

Ali Bashir from the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai describes a tool to detect tandem repeats (PACMonSTR), which he believes are dramatically underrepresented in the human genome reference but that can be discovered with PacBio sequencing. In a collaboration with Cold Spring Harbor Laboratory and Cornell, Bashir and his team generated shotgun, whole-genome sequence data from human genomic DNA using PacBio sequencing. Their goal was to find structural variation features that are not present in the existing reference. He shows numerous examples wherein the long PacBio reads were able to resolve inversions in the sample,…

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Sunday, October 25, 2020

Webinar: Iso-seq analysis & beyond – advanced bioinformatics for transcriptome sequencing using long reads

In this webinar, Elizabeth Tseng from PacBio demonstrates how to run the Iso-Seq bioinformatics software pipeline that is part of PacBio’s SMRTAnalysis software suite. Both the web portal interface (SMRT Portal) and the command line version will be introduced. In addition, she reviews the community version of Iso-Seq (pbtranscript-tofu) and other community tools to perform additional analyses.

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Sunday, October 25, 2020

PAG Conference: Diploid genome assembly and comprehensive haplotype sequence reconstruction

Jason Chin, senior director of bioinformatics at PacBio, talks about using long-read sequence data to generate diploid genome assemblies to produce comprehensive haplotype sequence reconstructions. In the presentation, Chin describes the FALCON Unzip process that combines SNP phasing with the assembly process and allows for determination of the haplotype sequences and identification of structural variants. He presents an example of diploid assembly from inbred Arabidopsis strains.

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