Mario Caccamo, head of bioinformatics at The Genome Analysis Centre (TGAC) in the UK, integrates many different sequencing technologies to get the best of each for optimal genome assemblies, analysis, and annotation. He uses PacBio’s SMRT Sequencing due to its unique long reads for scaffolding and finishing genomes.
Bart Weimer, a professor at the University of California, Davis, who is leading the 100K Foodborne Pathogen Genome Project, talks about using PacBio sequencing to produce long reads for microbial genomes as well as to study how bacteria use epigenetics to regulate gene expression.
In this ASHG workshop presentation, Janet Song of Stanford School of Medicine shared research on resolving a tandem repeat array implicated in bipolar disorder and schizophrenia. These psychiatric diseases share a number of genomic risk variants, she noted, but scientists continue to search for a specific causal variant in the CACNA1C gene suggested by previous genome-wide association studies. SMRT Sequencing of this region in 16 individuals identified a series of 30-mer repeats, containing a total of about 50 variants. Analysis showed that 10 variants were linked to protective or risk haplotypes. Song aims to study the function of these variants…
In this AGBT presentation, Marty Badgett shares a look at the latest results from circular consensus sequencing (CCS) mode for highly accurate reads and data from our soon-to-be-released Sequel II System. As he demonstrates, CCS reads cover the same molecule many times, delivering high consensus accuracy despite noisy raw reads; on average, reaching 10 passes achieves Q30 accuracy. Badgett offers several examples where this is useful, such as pharmacogenomic gene analysis and resolving metagenomic communities. He also provides an update on the Iso-Seq method, which can now segregate transcripts into haplotype-specific alleles using a new tool called Iso-Phase.
In this webinar, Jonas Korlach, Chief Scientific Officer, PacBio provides an overview of the features and the advantages of the new Sequel II System. Kiran Garimella, Senior Computational Scientist, Broad Institute of MIT and Harvard University, describes his work sequencing humans with HiFi reads enabling discovery of structural variants undetectable in short reads. Luke Tallon, Scientific Director, Genomics Resource Center, Institute for Genome Sciences, University of Maryland School of Medicine, covers the GRC’s work on bacterial multiplexing, 16S microbiome profiling, and shotgun metagenomics. Finally, Shane McCarthy, Senior Research Associate, University of Cambridge, focuses on the scaling and affordability of high-quality…
The Earlham Institute was one of the first labs to adopt the PacBio Sequel II System. Karim Gharbi, Head of Genomics Pipelines, discusses how SMRT Sequencing and HiFi reads have increased throughput and reduced costs for genome, transcriptome, and metagenomics projects.
In this SMRT Leiden 2020 Online Virtual Event presentation Pedro Oliveira of Mount Sinai shares his research on Clostridioides – a leading cause of nosocomial-acquired diarrhea and colitis across the developed world. In this study, Oliveira and coworkers performed the first comprehensive DNA methylome analysis of 36 human C. difficile isolates from a hospital setting using SMRT Sequencing and comparative epigenomics.
In this SMRT Leiden 2020 Online Virtual Event presentation, Marcela Uliano da Silva of Wellcome Sanger Institute shares her work using CCS data combined with HiC reads to assemble chromosome-level genomes for Lepidoptera. This was done as part of the The Darwin Tree of Life Project which is assembling high-quality genomes for all eukaryotic species in Britain and Ireland. Find data: https://github.com/darwintreeoflife/darwintreeoflife.data
In this SMRT Leiden 2020 Online Virtual Event presentation, Richard Kuo of The Roslin Institute shares his work on using Iso-Seq data to gain a better understanding of the biology of a species. Kuo demonstrates how these analyses can change the way we look at genome assemblies, differential gene expression, and functional annotation.