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.
Missed us at ESHG? No problem! Sign up to view the recording and copies of the poster presentations.
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
Single-Cell Isoform Analysis of the Nervous System
Hagen Tilgner, Ph.D.
Assistant Professor of Neuroscience, Weill Medical College of Cornell University
Latest Product and Application Updates
Jonas Korlach, Ph.D.
Chief Scientific Officer, PacBio
Date and Time: Sunday, August 29, 2021 I 2:00 – 2:30 p.m. CEST
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
# | 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 |