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Are you ready to sequence human genomes with confidence? Join us October 15-19 at ASHG 2019 in Houston, Texas. Find out how the new Sequel II System and the range of SMRT Sequencing applications can help advance your science with affordable, highly accurate long-read sequencing data you can trust.

There are many ways to engage with us at ASHG and we really look forward to seeing you there.
Ready to integrate PacBio long-read sequencing into your research workflow? Request a meeting at ASHG by checking the box below.
Not able to attend ASHG? Sign-up below and we’ll send you the recording of the PacBio workshop and all the posters we’ll be presenting.


Date and Time: Wednesday, October 16, 12:45-2:00 p.m. CDT
Location: Hilton Americas-Houston, Lanier Ballroom AB, Level 4


Elizabeth Tseng, Ph.D., Principal Scientist, PacBio
Aaron Wenger, Ph.D., Principal Scientist, PacBio

PacBio Single Molecule, Real-Time (SMRT) Sequencing produces the long reads with high consensus accuracy needed for reference-quality de novo genome assembly, comprehensive structural variant detection, and whole transcriptome sequencing. Now with the higher throughput Sequel II System, many studies of human genomes and transcriptomes can be completed with just one SMRT Cell.
In this CoLab session, we present the newest laboratory and data analysis workflows using the Sequel II System and demonstrate how they have been applied to identify disease-causing variants. With the structural variant detection workflow, you can now detect insertions and deletions >20 bp, inversions, translocations, and copy-number variants with high precision and recall for two human genomes using one SMRT Cell. Similarly, for RNA Sequencing using the Iso-Seq Express workflow you can produce 2-4 million full-length reads, which is sufficient to characterize a whole human transcriptome with one SMRT Cell. Furthermore, the highly accurate long reads (HiFi reads) generated for each transcript molecule allow for identification of single nucleotide variants, cell barcodes, and unique molecular identifiers in single-cell samples with no need for error correction.


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

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

Wednesday, October 16: 10:00 a.m. - 4:30 p.m.
Thursday, October 17: 10:00 a.m. - 4:30 p.m.
Friday, October 18: 10:00 a.m. - 3:30 p.m.

PacBio Sequel II System: Structural Variants and Whole Transcriptome in 1 SMRT Cell Each

Date and Time: Friday, October 18, 10:00-10:30 a.m. CDT
Location: George R Brown Convention Center, Exhibit Hall, Theater #3, Booth 1209








Sequence with Confidence – A New Era of Highly Accurate Long-read Sequencing
Emily Hatas, M.B.A.
Senior Director, Business Development

Long Read Sequencing in Oncology and Population Research: Perspectives and Opportunities
Shawn Levy, Ph.D.
Director, Genomic Services Laboratory
Faculty Investigator
HudsonAlpha Institute for Biotechnology

Long Read Sequencing for Disease Genome Analysis: Our Experiences
Naomichi Matsumoto, M.D., Ph.D.
Professor and Chair, Department of Human Genetics
Yokohama City University





By registering on this web page, you are consenting and agreeing to collection and use of that information by PacBio in accordance with its Privacy Policy.




Accurate and Affordable Long-Read Sequencing of Human Genomes on the Sequel II System

Explore human genetic variation with confidence!

Apply to win free SMRT Sequencing to advance understanding of human health and disease. Submit your 250-word proposal by November 22, 2019.

Learn more at



Interested in getting a sequencing project started? Stop by our Certified Service Providers (CSPs) at ASHG to talk about project design and next steps.


Wednesday, October 16 | 3:00-4:00 p.m.  
# Title First Author
1068 Comprehensive structural and copy-number variant detection with long reads A. M. Wenger
1455 Full-length RNA-seq of Alzheimer brain sample on the PacBio Sequel II platform E. Tseng
1476 Population-scale identification of variation in tandem repeat regions E. Dolzhenko
1647 De novo assembly and characterization of a breast cancer reference sample using multiple whole genome sequencing technologies C. Xiao
1677 AnnoSV for annotation and prioritization of complex coding and noncoding structural variants in human diseases L. Fang
1692 High-quality human genomes achieved through HiFi sequence data and FALCON-Unzip Assembly Z. N. Kronenberg
1695 A robust benchmark for germline structural variant detection J. Zook
1707 Comprehensive haplotype resolved MHC sequences from whole genome shotgun sequencing from single individual J. Chin
1755 Understanding genetic variation in cancer using targeted long-read sequencing S. Iyer
1769 High throughput high molecular weight DNA extraction from human tissues for long-read sequencing K. Liu
1836 The value of long read amplicon sequencing for clinical applications L. Aro
1866 Detection and phasing of small variants in Genome in a Bottle samples with highly accurate long reads W. J. Rowell
1883 Long-read sequencing and phasing of mutations in TP53 using Xdrop targeted enrichment A. Ameur
2511 Phasing of genomic rearrangements reveal involvement of both homologous chromosomes in pre- and post-zygotic events C. Carvalho
2790 Hybrid de novo genome assembly of individuals with cystic fibrosis using linked- and long-read sequencing S. Mastromatteo
3195 The functional impact of structural variation in the human brain R. A. Vialle
Thursday, October 17 | 2:00-3:00 p.m.  
# Title First Author
1342 Repeat configurations of CGG repeats in the NBPF19, a causative gene for neuronal intranuclear inclusion disease, and correlation of expanded CGG repeat sizes with age of onset S. Shibata
1540 Using long and linked reads to generate a new Genome in a Bottle small variant benchmark J. Wagner
1651 Value of the variations in noisy reads: Towards assembling human centromeres Y. Suzuki
1693 Mappa monstris: The benchmarking of alignment tools to establish best practices in long-read whole human genomics J. LoTempio
2221 Structural variant in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder J. M. Ekholm
2395 Adaptive archaic introgression of copy number variants introduces novel genes in humans P. H. Hsieh
Friday, October 18 | 2:00-3:00 p.m.  
# Title First Author
392 TLA & long-read sequencing: Efficient targeted sequencing and phasing of the CFTR gene C. Heiner
1703 The complete linear assembly and methylation map of human chromosome 8 J. Wagner
1787 Reducing the sample quality barriers between short and long read platforms to achieve genome comprehensiveness Y. Suzuki
2591 Targeted long-read sequencing of complex human duplicated regions J. LoTempio
2741 RNA-seq isoform reconstruction and long read sequencing identifies smoking-induced alternative polyadenylation site usage in 1,221 smokers from the COPDGene Study P. Castaldi

Wednesday, October 16 | 4:15-5:45 p.m. | Grand Ballroom B-Level 3
Session: Single Cell Transcriptomics of the Brain to Inform the Genetics of Neurological Disorder
# Title First Author
57 Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells H. Tilgner
Wednesday, October 16 | 4:15-5:45 p.m. | Room 361D-Level 3
Session: Improved Structural Variation Detection Leads to New Insights into Disease and Development
77 Long read single molecule sequencing identifies putative fetal hemoglobin modifier loci in Africans with
sickle cell anemia
P. Lurie
78 DeBreak: Deciphering the exact breakpoints of structural variants using long sequencing reads Z. Chong
Thursday, October 17 | 4:15-5:15 p.m. | Room 301A-Level 3
Session: Haplotype-level interrogation of the Genome
220 PRINCESS: Framework for comprehensive detection and phasing of SNPs and SVs M. Mahmoud
221 A robust and production-level approach to haplotype-resolved assembly of single individuals S. Garg
223 Long-read Single Molecule, Real-Time (SMRT) Sequencing of NUDT15: Phased full gene haplotyping and pharmacogenomic allele discovery Y. Yang
Friday, October 18 | 9:00-9:15 a.m. | Grand Ballroom B-Level 3
Session: Fast Methods for Genome Analysis
248 Assembling a de novo human genome in 100 minutes A. Khalak
Friday, October 18 | 9:00-9:15 a.m. | Room 371A-Level 3
Session: Fast Methods for Genome Analysis
312 Refining polymorphic retrotransposon insertions in human genomes W. Zhou
313 Incorporating long transcriptomic data into GENCODE J. E. Loveland

Booth #1435 Booth #1403