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Thursday, November 7, 2019

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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Thursday, November 7, 2019

Video: Sample of an unknown soldier

Research into a bacterial sample from World War I has revealed secrets of the dysentery-causing strain’s success and uncovered the story of the soldier behind the sample.

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Thursday, November 7, 2019

ASHG PacBio Workshop: Resolving complexity of the human genome

Evan Eichler, Howard Hughes Medical Investigator from the University of Washington discusses his use of the PacBio system to study difficult-to-sequence regions of the human and chimp genomes. Eichler has identified a number of rapidly evolving hot spots in the human genome that are associated with disease. These regions are quite long and have extremely repetitive DNA sequence, making them difficult to elucidate with short-read sequencing and very expensive to interrogate with Sanger sequencing. Eichler’s goal is to fill in the missing regions of the human genome reference, many of which contain segmental duplications.

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Thursday, November 7, 2019

AGBT PacBio Workshop: Introduction – 15 years of human genomes

PacBio CEO Mike Hunkapiller looks at the past, present, and future of human genome sequencing, reflecting on the 15-year anniversary of the announcements of the first human genomes, noting these efforts required considerable effort and produced draft assemblies with contig N50s in the 20-24 kb range. He unveils the PacBio® diploid assembly of Craig Venter’s genome.

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Thursday, November 7, 2019

AGBT 2015 Highlights: Customer interviews day 1

PacBio customers discuss their applications of PacBio SMRT Sequencing and long reads, including Lemuel Racacho (Children’s Hospital of Eastern Ontario Research Institute), Matthew Blow (JGI), Yuta Suzuki (U. of Tokyo), Daniel Geraghty (Fred Hutchinson Cancer Center), and Mike Schatz (CSHL)

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Thursday, November 7, 2019

PAG PacBio Workshop: Genome assembly strategies of the recent polyploid, Coffea arabica

Susan Strickler of the Boyce Thompson Institute presented strategies for assembling the genome of Arabica coffee, an allotetraploid with a genome size of approximately 1.3 Gb. A de novo PacBio assembly was constructed and presented. The new high-quality reference will be used to guide assemblies of the diploid ancestors of Arabica coffee and re-sequencing data for a set of C. arabica accessions to more fully characterize the genetic diversity of this crop species that is highly susceptible to climate change.

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Thursday, November 7, 2019

PAG PacBio Workshop: De novo assembly of a complex panicoid grass genome using ultra-long PacBio reads with P6-C4 chemistry

Robert VanBuren of the Danforth Plant Science Center and winner of the 2014 SMRT Grant Program presents a de novo assembly of the Oro grass genome (Oropetium thomaeum). The reference genome will aid scientist studying drought tolerance in common crop species, especially cereals, though comparative genomics to understand potential key genetic underpinnings for this “resurrection” trait. Initial comparative results to Brachypodium and maize are presented, as well as secondary analysis to identify key metabolic traits.

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