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Thursday, November 7, 2019

Podcast: Going beyond the $1,000 genome with Mark Gerstein

Mark Gerstein is the co-director of the Yale Computational Biology and Bioinformatics program where he focuses on better annotation of the human genome and better ways to mine big genomics data. He has played a big role in some of the large genomics initiatives since the first human genome project, including ENCODE and the 1,000 Genomes Project. “I’m very enthusiastic, of course, about the thousand dollar genome, but I don’t think that a true human genome has arrived for a thousand dollars,” Mark says at the outset of this Mendelspod interview. “The great excitement of next generation sequencing—which is deserved—has…

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Thursday, November 7, 2019

Podcast: Marc Salit discusses creating the foundation of genomics

Marc Salit is the leader of the Genome Scale Measurement Group at the National Institute of Standards and Technology or NIST. In this Mendelspod podcast, he explains how NIST played a pivotal, foundational role in enabling the ‘Century of Physics.’ Now Marc and NIST are looking for the right set of standards to enable the already-upon-us “Century of Biology.” The human reference genome is an example of a standard that Marc and his team are developing. Currently they are piloting what they call “Genome in a Bottle,” a physical reference standard to which all other human genomes can be measured.…

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Thursday, November 7, 2019

Podcast: The 9 billion people problem – Rod Wing on plant genomics

By 2050, there will be 9 billion people on the planet. What will they eat? This is the question that led Rod Wing, Director of the Arizona Genomics Institute, into the field of plant genomics. What has been accomplished so far in the mission to come up with some super green crops? And how does Rod see anti-GMO sentiment and the recent trend toward gluten free diets factoring in? After answering these questions, he dives into a discussion on which sequencing instruments he has used for plant work. Unsurprisingly, Rod prefers the PacBio long reads even though the cost is…

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Thursday, November 7, 2019

ASHG Conference: Comprehensive genome and transcriptome structural analysis of a breast cancer cell line using PacBio long read sequencing

During this presentation from ASHG 2015, Maria Nattestad of Cold Spring Harbor Laboratory described the study of a Her2-amplified breast cancer cell line using long-read sequencing from PacBio. With reads as long as 71 kb, she was able to characterize extensive and complex rearrangements and found more than 11,000 structural variants. She also used the Iso-Seq method to find gene fusions, including some novel ones.

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Thursday, November 7, 2019

PAG Conference: Update on sequencing of the Cabernet sauvignon genome

Grant Cramer from the University of Nevada, Reno, and Dario Cantu from the Univeristy of Callifornia, Davis, discuss past challenges with sequencing Clone 8 of Cabernet Sauvignon (Vitis vinifera). An assembly of the genome was attempted with approximately 110x Illumina reads and 5x PacBio reads. The PacBio SMRT Sequencing read made major improvements in the assembly compared with the results of Illumina reads only. However, the assembly results were still unsatisfactory, so an additional 100-fold SMRT Sequencing coverage had been generated. An update on the current sequencing results and status of the assembly are presented.

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Thursday, November 7, 2019

PAG Conference: From sequencing to chromosomes – new de novo assembly and scaffolding methods improve the goat reference genome

Sergey Koren of the National Biodefense Analysis and Countermeasures Center (NBACC) discusses integrating the MinHash Alignment Process (MHAP) with Celera Assembler to enable reference-grade assemblies of model organisms, revealing novel heterochromatic sequences and filling low-complexity gap sequences in the GRCh38 human reference genome. Dr. Koren and his team have applied this method to assemble the San Clemente goat genome. Combining SMRT Sequencing and next-generation optical mapping from BioNano Genomics generates an assembly that is over 150-fold more contiguous than the latest Capra hircusgoat reference. In combination with Hi-C sequencing, the assembly surpasses reference assemblies de novo, with minimal manual intervention.…

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Thursday, November 7, 2019

PAG Conference: Approaches taken, progress made, and enhanced utility of long read-based goat, swine, cattle and sheep reference genomes

Tim Smith, molecular geneticist at the USDA Agricutural Research Service (ARS) in Clay Center, Nebraska, and director of the U.S. Meat Animal Reseach Center Core Facilities, discusses the USDA’s efforts to improve the goat, swine, cattle, and sheep genomes through long read-based de novoassemblies scaffolded with a variety of approaches. Recent advances in long-read sequencing, combined with new technologies for scaffolding the resulting contigs, have made it possible to make a significant change in the quality of genome assemblies for a very small fraction of the price required to create the originals. Although a change of reference genomes incurs cost,…

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Thursday, November 7, 2019

PAG PacBio Workshop: Conservation genomics of a critically endangered Hawaiian bird: A high quality genome assembly of the ‘alala will assist in population management and reintroduction

Oliver Ryder speaks about efforts to rescue the Hawaiian crow, a bird that has been extinct in the wild since 2002, and reintroduce it to its native habitat. Critical to this work is a new SMRT Sequencing reference genome assembly, which Ryder says is already one of the best avian assemblies out there. The resource may help deal with challenges like inbreeding and disease susceptibility.

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Thursday, November 7, 2019

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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Thursday, November 7, 2019

PAG PacBio Workshop: Crowdfunding for science – introducing the Genome Galaxy Initiative

PacBio’s Jenny Gu and Christina Tran from Experiment talk about the use of alternative funding sources to support SMRT Sequencing projects. The Genome Galaxy Initiative is a new program from PacBio that helps scientists launch their long-read sequencing projects on Experiment’s crowdfunding platform. Experiment has raised more than $5 million to fund hundreds of scientific projects since it kicked off in 2012.

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