ASHG 2020 - Unlock Your Next Great Discovery

ESHG 2021
Unlock Your Next Great Discovery


ESHG 2021 - Virtual Conference OnDemand

Learn how scientists are adopting highly accurate long reads, known as HiFi reads, to gain views of human genetic diversity.

With high accuracy (>99.9%) and long read lengths up to 25 kb, HiFi sequencing allows scientists to find causative pathogenic variants and identify novel disease-associated genes with best-in-class variant calling for all variant types as well as complete and phased assemblies of the human genome.

PacBio scientists presented new research at the ESHG Conference demonstrating how HiFi sequencing enables new discoveries.


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Emily Farrow headshot

Applications of Third Generation Sequencing in Unsolved Disease

Emily G. Farrow, Ph.D., CGC

Director, Laboratory Operations - Genomic Medicine Center, Children’s Mercy Kansas City

Hagen Tilgner headshot

Single-Cell Isoform Analysis of the Nervous System

Hagen Tilgner, Ph.D.

Assistant Professor of Neuroscience, Weill Medical College of Cornell University

Jonal Korlach headshot

Latest Product and Application Updates

Jonas Korlach, Ph.D.

Chief Scientific Officer, PacBio

PacBio Corporate Satellite meeting

Date and Time: Sunday, August 29, 2021 I 2:00 – 2:30 p.m. CEST

Increasing Solve Rates in Rare and Mendelian Disease Research with Long-Read Sequencing

Join us for our Corporate Satellite to learn how leading experts in rare disease research like Dr. Susan Hiatt from HudsonAlpha Institute for Biotechnology have used HiFi sequencing to discover genomic variation that has been missed by whole exome or genome sequencing studies using short reads.

Jonas Korlach, Ph.D.

Chief Scientific Officer, PacBio

Susan Hiatt, Ph.D.

HudsonAlpha Institute for Biotechnology

Posters & Oral Presentations

# Date Title First Author
C11.1 Sunday 29 August, 12:00-12:15 pm CEST Comprehensive detection of variants in unsolved rare disease cases with PacBio HiFi reads  William J. Rowell
# Date Title Author
P18.012.B Sunday 29 August, 15:00-15:45 pm CEST Full-length sequencing of CYP2D6 locus with HiFi reads increases genotyping accuracy Lei Zhu
P17.028.C Monday 30 August, 13:00-13:45 pm CEST Resolving complex pathogenic alleles using HiFi long-range amplicon data and a new clustering algorithm John Harting
P15.015.C Monday 30 August, 13:00-13:45 pm CEST Targeting clinically significant dark regions of the human genome with high accuracy, long-read sequencing Ian McLaughlin

Learn More About HiFi Sequencing

Explore these resources to learn more about HiFi sequencing
Interested in getting started with long-read sequencing?
  • Connect with a PacBio scientist to discuss your long-read sequencing project.

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