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Journeying to ASHG 2018, October 16-20, in San Diego, CA? Then make sure you beat a path to our booth #705! We’ll be on-hand to help you learn how Single Molecule, Real-Time (SMRT) Sequencing can help advance your research by providing full access to human genomic variation through unmatched read lengths, uniform coverage, and exceptional accuracy.

Below, explore the many ways to engage with us at the conference. We really look forward to meeting you!

Not attending ASHG? Then make sure to sign-up below to receive the recording of our ASHG workshop and copies of the posters we’ll present at the conference.

Wednesday, October 17
9:15-9:30 a.m.
Room 6C,
Upper Level
Platform Talk #26: Targeted Full-length Transcriptome Sequencing to Confirm Gene Models Identifies Novel Isoforms
Elizabeth Tseng, PacBio
2:00-3:00 p.m. Poster #1743: Phased SLC6A4 Promoter Haplotype Determination using Long-read Single Molecule Real-time (SMRT) Sequencing
Yao Yang, Icahn School of Medicine at Mount Sinai
Poster #1563: Updating and Expanding the Resources from the 1000 Genomes Project in the International Genome Sample Resource (IGSR)
Susan Fairley, EMBL
Poster #1701: Refining the Ability to Detect Human-specific LINE-1 Insertions using Long-read Sequencing Technology
Weichen Zhou, University of Michigan
Poster #1731: Clinical and Genetic Implications for Long-read Sequencing after Testing the ONT MinION and PacBio Sequel across the C9orf72 ‘GGGGCC’ Repeat Expansion in Human Carriers
John Fryer, Mayo Clinic
3:00-4:00 p.m. Poster #1446: SAMPLOT: Rapid Structural Variant Visualization for Short, Long, Linked, and Phased Reads
Ryan Layer, University of Colorado

Poster #1506: Improved Dog Reference Assembly Enables Paralog-specific Identification of Tandem Repeats in Assembled Gaps using QuicK-mer
Feichen Shen, University of Michigan

Poster #1806: Nanobind Magnetic Disks for Rapid High MW DNA Extraction and Library Preparation in Long-read Sequencing and Optical Mapping Applications
Kelvin Liu, Circulomics Inc
Poster #1818:
Xdrop: A New Droplet-based Technology for Targeted Long-read Sequencing
Adam Ameur, Uppsala University
Friday, October 19
2:00-3:00 p.m. Poster #1703: Highly-accurate Detection of SNVs from Long-read Sequencing with High Error Rates
Peter Edge, UCSD
Poster #1739: Amplification-free Targeted SMRT Sequencing using CRISPR/Cas9 for Studying Repeat Expansions in Huntington’s Disease
Ida Höijer, Uppsala University
Poster #1811: No-amp Targeted SMRT Sequencing using a CRISPR-Cas9 Enrichment Method
Jenny Ekholm, PacBio
Poster #2021: Long-read Assay of DMD mRNA Reveals Isoform Heterogeneity in Normal and Duchenne Muscle
Richard Wang, UCLA
Poster #2771: Building Human Reference Genomes for Africa
Martin Pollard, Wellcome Sanger Institute
3:00-4:00 p.m. Poster #920: A Multi-enzyme DNA Repair Mix Improves Library Quality and Sequencing Accuracy
Margaret Heider, New England Biolabs, Inc.

Poster #1076: An Intronic Repeat Expansion in Familial ALS
Meredith Course, University of Washington

Poster #1706: Joint Calling and PacBio SMRT Sequencing for Indel and Structural Variant Detection in Populations
Aaron Wenger, PacBio

Date and Time: Thursday, October 18, 12:30-1:45 p.m. PDT
Location: San Diego Convention Center, Room 29AB, Upper Level


Elizabeth Tseng, Ph.D., Principal Scientist, PacBio
Targeted Full-Length Transcriptome Sequencing using PacBio Iso-Seq Method
The PacBio Iso-Seq method sequences full-length transcripts of 10 kb or longer with no assembly required, allowing unambiguous characterization of alternative splicing events, TSS usage, and allele-specific, isoform-specific phasing information. We present two cost-efficient targeted enrichment methods for characterizing the landscape of full-length transcripts (Iso-Seq method) on the PacBio platform. We demonstrate targeted Iso-Seq in a human disease gene to showcase the ability to identify novel isoforms and phasing information.
We also present the new Iso-Seq3 application in the upcoming SMRT Link software release that can process more than 10 SMRT Cells of data within a day. Combined with the targeted enrichment method, it is now possible to sequence hundreds of genes at high resolution using only 1 SMRT Cell, while having bioinformatics answers within a matter of hours.

Aaron Wenger, Ph.D., Principal Scientist, PacBio
Structural Variant Calling with the PacBio Sequel System and SMRT Link 6.0
The accuracy and read length of PacBio SMRT Sequencing provides a unique ability to identify large indels and structural variants in the human genome. We will present the newest best practices for variant detection with the Sequel System and SMRT Link 6.0. The updates decrease the cost per genome, provide base pair precision for most variant calls, extend the range of indel detection from >50 bp to >20 bp, and add support for inversions and translocations.

All posters are on display in the Exhibit Hall, Ground Level

Stop by our booth and chat directly with PacBio staff who will be on-hand to answer your questions and share insights.

Wednesday, October 17: 10:00 a.m. – 4:30 p.m.
Thursday, October 18: 10:00 a.m. – 4:30 p.m.
Friday, October 19: 10:00 a.m. – 4:30 p.m.

Resolving the Genetics of Human Diseases with PacBio Sequencing of Structural Variants and Alternative Splicing

Date and Time: Friday, October 19, 10:00-10:30 a.m. PDT
Location: San Diego Convention Center, Exhibit Hall, Theater #3, Booth 241








Amplicon SMRT Sequencing Applications in Human Genetics
Stuart Scott, Ph.D., Associate Professor, Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai

Characterization of a Large, Human-specific Tandem Repeat Array Associated with Bipolar Disorder and Schizophrenia
Janet Song, Ph.D. Candidate, Department of Genetics, Stanford School of Medicine

Thursday, October 18
11:00-11:15 a.m.
Ballroom 20A,
Upper Level   
Platform Talk #185: Illuminating the Dark Genome: Evaluation of Technologies to Assess Medically Relevant Dark Spots
Fritz Sedlazeck, Baylor College of Medicine
2:00-3:00 p.m. Poster #1789: A Simple Segue from Sanger to High-throughput SMRT Sequencing with an M13 Barcoding System
Lori Aro, PacBio
Poster #1705: A Comparative Evaluation of Accelerated Variant Calling Pipelines for Human Germline Whole-genome Sequencing Data
Sorina Maciuca, Wellcome Sanger Institute
Poster #1579: A Preliminary Assessment of Long-read Structural Variant Calling Software
Jonathan LoTempio, George Washington University
Poster #2731: Structural Variation of the Human Population: Characterizing and Sequence-resolving Variation to Identify Common Alleles, Correct Reference Errors, and Improve Short-read Analysis
Peter Audano, University of Washington
3:00-4:00 p.m. Poster #1576: FALCON-Phase Integrates PacBio and HiC Data for De Novo Assembly, Scaffolding and Phasing of a Diploid Puerto Rican genome (HG00733)
Sarah Kingan, PacBio

Poster #1648: How Well Can You Detect Structural Variants: Towards a Standard Framework to Benchmark Human Structural Variation
Justin Zook, NIST

Poster #2668: High-throughput Pipeline for HLA Typing identifies >800 Novel Alleles in Populations from Africa
Tarryn Porter, The Wellcome Sanger Institute





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The Iso-Seq Method for Discovering Alternative Splicing in Human Diseases
Elizabeth Tseng, Ph.D., Principal Scientist, PacBio

PacBio Product Updates and Roadmap - Announcing the Release of New Chemistry and Software

Jonas Korlach, Ph.D., Chief Scientific Officer, PacBio



High-quality, Long-read PacBio Sequencing for Human Genetics Research

Do you want to explore the human genome with a comprehensive view of structural variation?

Apply to win free SMRT Sequencing to uncover the hidden heritability of disease or better understand population diversity. Applications will be accepted beginning Monday, October 15, 2018.

Learn more at



Hit the trail, visit our Certified Service Providers, and enter for a chance to win free sequencing!

Our Certified Service Provider (CSP) Program is a global network of validated companies that offer SMRT Sequencing.

Here’s how it works:

1. Come by our booth #705 and grab your passport.
2. Hike to participating CSPs and get your card stamped by each.
3. Return to our booth and turn in your completed passport for a chance to win free sequencing.
4. Join us for the live drawing at our booth on Friday at noon!
Tuesday, October 16
1:00-4:00 p.m.
Room 28B,
Upper Level
GRC & GIAB Workshop: Getting the Most from the Reference Assembly and Reference Materials
De Novo Assembly of Haplotype-resolved Genomes and Building a Human Pan-genome Reference
Arang Rhie, NHGRI
Using Long-read Data to Reveal Variation and Advance the Human Reference Genome
Peter Audano, University of Washington
Reference Genome Annotation Updates
Terence Murphy, NCBI; Joanella Morales, EBI
The Human Reference Assembly: Past, Present and Future
Valerie Schneider, NCBI
Genome in a Bottle Benchmarks for Structural Variants and New Public Data
Justin Zook, NIST
An Assessment of Computational Genotyping of Structural Variations for Clinical Diagnosis
Fritz Sedlazeck, Baylor
Generating High-quality Reference Human Genomes using PromethION Nanopore Sequencing
Miten Jain, UCSC
Evaluations of GIAB Structural Variants for Benchmarking
Andrew Carroll, DNAnexus; Aaron Wenger, PacBio; Joyce Lee, BioNano; Yuval Porat, Genoox