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Thank you for celebrating with us at ESHG
Stop by our booth to chat with PacBio staff and have your questions answered. We are excited to learn about your sequencing projects and research.
Booth hours:
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Sunday, 11 June 2023 14:00 - 15:30 BST Room Dochart
Niall Lennon, Broad Institute of MIT & Harvard, Cambridge, USA
Renee Salz, Radboudumc, Nijmegen, The Netherlands
Neil Ward, GM and Vice President EMEA, PacBio, London, UK
Mike Eberle, PacBio, San Diego, USA
Geoff Henno, PacBio, San Diego, USA
Sequencing by Binding (SBB) is a new short-read sequencing method which separates the labeled nucleotide binding step from the nucleotide incorporation step, allowing for optimization of each step separately and thereby resulting in higher sequencing accuracy. I will describe the performance and benchmarking of SBB sequencing, following by examples where higher short-read sequencing accuracy can be a benefit, including higher accuracy in sequencing long homonucleotide stretches, and higher sensitivity and specificity for rare variant detection for cell-free DNA and infectious disease applications.
Tandem repeats (TRs) are genomic regions consisting of repetitions of a DNA sequence. TRs are associated with many genetic disorders and harbor up to 80% of structural variants. TRs are difficult to analyze with short-read sequencing data due to their repetitiveness and structural complexity. The standard computational methods for variant calling often do not correctly resolve variation in TR regions.
Sunday 11 – Monday 12 June 2023 BST
Session | Title | Presenter | Date/Time |
P18.025.A | Complete resolution of gene/ paralog pairs with PacBio HiFi sequencing | Mike Eberle | Sunday 11 June 13:00 - 14:00 |
P16.003.C | Low-coverage genotyping-by-sequencing with accurate long HiFi reads and optimized imputation | George Busby | Monday 12 June 13:00 – 14:00 |
P16.075.C | High throughput multiomic analysis for human genomics on PacBio Revio system | Deborah Moine | Monday 12 June 13:00 - 14:00 |
P16.011.D | PacBio HiFi WGS identifies potential causal variant not found by short read sequencing | William Rowell | Monday 12 June 15:45 - 16:45 |
P19.056.D | From sample to star alleles: a long-read pharmacogenomics pipeline powered by Twist target enrichment and PacBio HiFi sequencing | Sam Holt | Monday 12 June 15:45 - 16:45 |
Stop by our booth to chat with PacBio staff and have your questions answered. We are excited to learn about your sequencing goals and learn more about your research.
Interested in getting a sequencing project started? Stop by our service providers to talk about project design and next steps.