ASHG 2022
October 25–29, 2022
Los Angeles, California
We look forward to seeing you at ASHG 2022! Join us to find out how HiFi sequencing is empowering scientists to explore the full spectrum of human genetic variation.
There are many ways to engage with us at the event. Complete the form on this page to book an onsite meeting with us, or to receive a recording of our workshop, all the posters, and other content we’ll present at the conference. Not able to attend? Not to worry! Sign up anyway to receive our content after the event.
In the meantime, you can explore all of the exciting scientific programming we have in store below.
Program highlights include:
Connect with PacBio
Wednesday, October 26, 2022, 12:30–1:30 PM PDT
LA Convention Center, Room 402 A/B, Level 2
PacBio is changing the game by pushing the limits on accuracy for both long-read and short-read sequencing. Come learn about advancements in the PacBio product portfolio and the impact they are having on human genomics from our special guests, Dr. Stacey Gabriel and Dr. Aziz Al’Khafaji from the Broad Institute.
CEO
PacBio
VP, Product Marketing
PacBio
Chief Genomics Officer
Broad Institute
Associate Director, Methods Development Lab
Broad Institute
Michael Eberle, PhD, VP Computational Biology, PacBio
TBP
Wednesday, October 26, 2022, 3:00–3:30 PM PDT
LA Convention Center, Exhibit Hall, CoLab Theater 2
A new standard is here. From the most complete and accurate genomes with methylation, phasing, and all classes of variation, to full-length transcriptomics, to ultra-sensitivity for “needle in a haystack” applications, PacBio technologies are enabling researchers to see more biology than ever before and drive the next wave of discoveries in human genomics. In this CoLab, we’ll review advances in PacBio technology and highlight examples of groundbreaking research that provide insights into even the most challenging “dark regions” of the genome with our special guest speaker, Dr. Fritz Sedlazeck from Baylor College of Medicine.
Speakers
Edd Lee
Director, Human Genomics Marketing
PacBio
Fritz Sedlazeck, PhD
Associate Professor, Human Genome Sequencing Center
Baylor College of Medicine
Thursday, October 27, 2022, 4:30–5:00 PM PDT
LA Convention Center, Exhibit Hall, CoLab Theater 2
In case you missed our corporate workshop, join us at this CoLab for a review and deeper dive into PacBio product portfolio updates.
Speakers
Aaron Wenger, PhD
Director, Product Marketing
PacBio
Friday, October 28, 2022, 10:00–10:30 AM PDT
LA Convention Center, Exhibit Hall, CoLab Theater 2
PacBio sequencing is being used to understand the most difficult rare disease cases and to sequence critically important genes in challenging regions of the genome, including pharmacogenomics (PGx) genes, CYP21A2, SMN1/2, HLA and more. Recent algorithmic advances now allow unprecedented accuracy in calling repeat expansions. Come discover how PacBio technology is making an impact in translational science, and learn about advances in targeted sequencing and repeat expansion calling on PacBio HiFi sequencing.
Speakers
Nina Gonzaludo, PhD
Sr. Manager, Human Genomics Marketing
PacBio
Egor Dolzhenko, PhD
Principal Scientist
PacBio
Wednesday, October 26, 2022, 3:00 - 3:30 pm PDT
LA Convention Center, Exhibit Hall, CoLab Theater #2
A new standard is here. From the most complete and accurate genomes with methylation, phasing, and all classes of variation, to full-length transcriptomics, to ultra-sensitivity for “needle in a haystack” applications, PacBio technologies are enabling researchers to see more biology than ever before and drive the next wave of discoveries in human genomics. In this CoLab, we’ll review advances in PacBio technology and highlight examples of groundbreaking research that provide insights into even the most challenging “dark regions” of the genome with our special guest speaker, Dr. Fritz Sedlazeck from Baylor College of Medicine.
Edd Lee
Director, Human Genomics Marketing, PacBio
Fritz Sedlazeck, PhD
Associate Professor, Human Genome Sequencing Center, Baylor College of Medicine
Monday, October XX X:00 pm PST
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Presenter name, title, credentials, Presenter name, title, credentials
Presenter name, title, credentials, Presenter name, title, credentials
| # | Title | First Author | Date/Time |
| 2314 | Increased Diagnostic Yield With Long Read Sequencing In Patients With Undiagnosed Neurodevelopmental Disorder | S. Jamuar | October 26, 3:00 - 4:45 pm PDT |
| 2322 | Long-read HiFi genome sequencing reveals a 2.7 kilobase intronic insertion in NR5A1as a cause of 46,XY disorder of sexual development | G. Del Gobbo | October 26, 3:00 - 4:45 pm PDT |
| 2354 | Ultra-low DNA input with long-read sequencing identified complex chromosomal rearrangements involving NIPBL in a Cornelia de Lange syndrome patient | N. Jiang | October 26, 3:00 - 4:45 pm PDT |
| 2723 | Accurate CYP2D6 star (*) allele diplotyping for long-read PacBio HiFi sequencing | J. Harting | October 26, 3:00 - 4:45 pm PDT |
| 3096 | PacBio HiFi sequencing provides highly accurate CpG methylation calls without bisulfite treatment | C. Saunders | October 26, 3:00 - 4:45 pm PDT |
| 3133 | Sequencing By Binding (SBB) enables a lower limit of detection for Tuberculosis resistance genes gyrA and katG | C. Wike | October 26, 3:00 - 4:45 pm PDT |
| 2269 | Clinical long-read genome sequencing: Analytical performance of germline small variant detection using HiFi genome sequencing | N. Hammond | October 27, 3:00 - 4:45 pm PDT |
| 2954 | De novo variant detection with HiFi reads | J. Lake | October 27, 3:00 - 4:45 pm PDT |
| 3012 | High throughput workflow for human whole genome sequencing using PacBio HiFi | J. Rocha | October 27, 3:00 - 4:45 pm PDT |
| 3132 | Sequencing By Binding (SBB) demonstrates superior performance in low-pass whole-human-sequencing applications | KY. Chen | October 27, 3:00 - 4:45 pm PDT |
| 2938 | Closing the gap: Solving complex medically relevant regions of the human genome | F. Sedlazeck | October 27, 3:00 - 4:45 pm PDT |
| # | Title | First Author | Date/Time/Location |
| 214 | Genome-wide analysis of mutations and epigenetic changes of tandem repeat regions in rare genetic disease cases | E. Dolzhenko | Oct. 26 | 2:15 - 2:30 pm PDT | West Bldg., Level 2, Room 502 |
| 223 | Rapid and scalable preclinical evaluation of personalized antisense oligonucleotides using organoids derived from rare disease patients | S.T. Younger | Oct. 26 | 5:55 - 6:15 pm PDT | West Bldg., Main Level, West Hall |
| 346 | Long-read RNA-seq to illuminate splice-driven mechanisms of human genetic diseases | G. Sheynkman | Oct. 28 | 8:30 - 10:00 am PDT | West Bldg., Main Level, Concourse Hall F |
| 486 | Pangenome graphs for the analysis of rare genetic diseases | C. Groza | Oct. 28 | 3:00 - 3:15 pm PDT | West Bldg., Main Level, Concourse Hall E |
| 546 | Non-coding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome | I. te Paske | Oct. 29 | 9:00 - 9:15 am PDT | West Bldg., Main Level, Concourse Hall F |
| 554 | Variant effect prediction based on custom long-read transcriptomes improves clinical variant annotation | R. Salz | Oct 29 | 9:30 - 9:45 am PDT | West Bldg., Level 2, Room 515 |
Stop by our booth and chat directly with PacBio staff who will be on-hand to answer your questions.
Also, mark your calendar and attend the many lightning talks* we have planned, including:
| Title | Speaker | Date/Time |
| Sequencing by binding overview | MariJo Gallina, Associate Director, PacBio | Oct. 26 | 4:00–4:15 PM |
| Single-cell isoform sequencing | Elizabeth Tseng, PhD, Associate Director, PacBio | Oct. 26 | 4:20–4:35 PM |
| Discovery at scale with HiFi target enrichment | Sarah Kingan, PhD, Associate Director, PacBio | Oct. 26 | 4:40–4:55 PM |
| SMRT methylation detection updates | Chris Saunders, PhD, Principal Scientist, PacBio | Oct. 27 | 3:10–3:25 PM |
| SureSelect & Alissa portfolio with SBB sequencing | Edward Jan, Associate Director, Product Marketing, Agilent | Oct. 27 | 3:30–3:45 PM |
| Leveraging PacBio long read sequencing on 10X Genomics single-cell and spatial libraries | Joshua Talboom, PhD, Science & Technology Advisor, 10X Genomics | Oct. 27 | 3:50–4:05 PM |
| Sequence with confidence: Hybrid capture with Twist target enrichment system | Tina Han, PhD, Sr. NGS Business Solutions Manager, Twist Biosciences | Oct. 27 | 4:10–4:25 PM |
| Deep Variant + DeepConsensus | Dan Cook, Software Engineer, Google | Oct. 28 | 12:30–12:45 PM |
| Nanobind HMW DNA extraction | MariJo Gallina, Associate Director, PacBio | Oct 28 | 12:50–1:05 PM |
| Targeted long-read sequencing identifies non-coding aberrations that underlie a substantial part of the missing heritability in Lynch syndrome | Richarda de Voer, Assistant Professor, Radboud University Medical Center | Oct 28 | 1:10–1:25 PM |
*Check back periodically for updated schedule.
Tuesday, October 25, 6:15 PM PDT
We look forward to seeing all the lucky ticket holders.
Ticket required to enter.