ESHG 2023 | GLASGOW

CHANGING THE GAME IN HUMAN GENOMICS

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Customer presentations, posters, and corporate satellite

PARTY

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Visit us at booth 450

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:

Saturday, 10 June: 9:30–18:30
Sunday, 11 June: 9:30–17:00
Monday, 12 June: 9:30–17:00

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cORPORATE SATELLITE

Changing the game in human genomics

Sunday, 11 June 2023 14:00 - 15:30 BST Room Dochart

Speakers

Scaling long reads to power cell biology, rare disease research, and population-scale discovery

Niall Lennon, Broad Institute of MIT & Harvard, Cambridge, USA

SUsPECT: A pipeline for variant effect prediction based on custom long-read transcriptomes

Renee Salz, Radboudumc, Nijmegen, The Netherlands

Reveal more with accurate sequencing at scale

Neil Ward, GM and Vice President EMEA, PacBio, London, UK

Towards a complete genome: Advances in long read informatics

Mike Eberle, PacBio, San Diego, USA

Session Chair

Geoff Henno, PacBio, San Diego, USA

Presentation

Speaker: Jonas Korlach, PhD – Chief Scientific Officer, PacBio
Date/Time: Saturday, 10 June 2023 9:00-9:30

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.

Speaker: Egor Dolzhenko, PhD – Bioinformatics Scientist, PacBio
Date/Time: Sunday, 11 June 2023 11:00-11:15

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.

Posters

Sunday 11 – Monday 12 June 2023 BST

Explore our exciting range of PacBio and customer presentations

Poster presentations

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

Visit us at booth X5-364

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.

PacBio service providers

Interested in getting a sequencing project started? Stop by our service providers to talk about project design and next steps.

Booth 211

Booth 212

Booth 213