Unlocking the Genome with Long-Read Sequencing in Genetic Disease Research

Follow two scientists on their journey of discovery using whole genome sequencing and single-cell RNA sequencing to shed light on previously unresolved medical mysteries. They will share how they have been able to successfully identify the genetic drivers in disease research by accessing the complete genomic landscape, including regions previously deemed impossible to sequence.

Watch the recording to:

  • Understand the unique advantages of highly accurate long-read sequencing for genetic disease research
  • Learn the importance of both high accuracy and long read lengths for identifying disease genes as well as causative variants that were previously missed by other technologies, in order to unravel the mystery of genetic diseases like autism and epilepsy.
  • Hear how single-cell RNA sequencing using long reads allows scientists to capture full-length isoforms, helpful in elucidating isoform diversity in Down syndrome brain that is known to carry the neuropathological hallmarks of Alzheimer’s disease.

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Accurate & Actionable Genomic Data for Agriculture, Conservation, and Ecology

Monday, January 10, 2022 12:50 PM - 3:00 PM
Town and Country Hotel San Diego
   View Program


Sequencing for a Better Future

Christian Henry, CEO, PacBio

The Bear Necessities: Reference Databases and Genomic Tools for Carnivore Conservation

Ellie Armstrong, Ph.D., Postdoctoral Fellow, Washington State University

Democratizing Genome Assembly and Annotation

Ted Kalbfleisch, Ph.D., Associate Professor, University of Kentucky

Molecular Genetic Applications Enabled by Platinum Quality Reference Genome Assemblies in Octoploid Strawberry

Mitchell Feldmann, Ph.D., Postdoctoral Fellow, University of California, Davis

Detecting the full spectrum of genomic variation with HiFi long reads

Michael Eberle, PhD, VP Computational Biology, PacBio




Christine Liu, PhD Candidate
University of California, San Diego


Cell-type-specific RNA Isoform Diversity in the Down Syndrome Brain

The combination of long-read and short-read sequencing approaches in snRNA-seq has expanded our ability to investigate transcriptomes at a cellular level by allowing us to identify cell types and attribute isoform expression to individual cells. Utilizing both PacBio and Illumina sequencing approaches, we conducted snRNA-seq on 29 human Down syndrome (DS) and non-DS control prefrontal cortex samples. We detected vast RNA isoform diversity within specific cell types that included numerous novel sequences. These results underscore the potential for variable isoform expression to play a role in cellular function. 

Tychele Turner, PhD, Assistant Professor
Department of Genetics, Washington University School of Medicine

Long-Read Sequencing as Part of the Pathway to Precision Genomics for Precision Medicine

We recently defined Precision Genomics as “determining all possible relevant genomic variation within an individual to the precise nucleotide.” There are currently several limitations to achieving Precision Genomics and one of these is genomic variation missed due to genomic technology. Long-read sequencing with high accuracy is a ground-breaking advance that enables us to perform analyses to assemble genomes within one day and to detect nearly all forms of variation in one single technology. In this talk, I will discuss my lab’s application of PacBio HiFi long-read sequencing to 9p minus syndrome and autism. In particular, for our study of autism we show how a SMRT Grant from PacBio enabled us to shed light on an unresolved medical mystery for a family.


Host and Moderator

Jenny Ekholm, PhD, Market Lead, Neurogenetics


Host and Moderator

Jenny Ekholm, PhD, Market Lead, Neurogenetics

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Pacbio colab talk

Monday, October XX X:00 pm PST

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Presentations + Posters

# Title First Author Date
2046 Automated repeat characterization of filaggrin from PacBio Sequel HiFi long reads A. Hawes February 28, 2022
2115 Genomic variant detection within human segmental duplications D. Soto
2123 High-throughput sequencing and mapping technologies applied to 10 human genomes with chromothripsis-like rearrangements U. Melo
2153 Maximizing the quality of RefSeq annotation in the era of big data S. Pujar
2189 Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs on haplotype-resolved assemblies T.-Y. Lu
2304 Enlightening the dark matter of the genome: Whole genome imaging identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumor M. Sabatella
2335 Genome-wide profiling of DNA methylation from a breast cancer and a matched normal cell lines C. Xioa
2408 Protective effect of 1p36.22 Ewing Sarcoma association locus is conferred by an allele specific GGAA-microsatellite duplication leading to TARDBP overexpression S. Baulande
2444 TrueXome technology is used for true gene enrichment and pseudogene suppression P. Song
2906 Identification of VNTR length polymorphism as a driver of local variation in DNA methylation levels A. Martin
3024 Telomere-to-telomere assembly and complete comparative sequence analysis of the human chromosome 8 centromere G. A. Logsdon *
3207 Long-read amplicon sequencing detects a bi-allelic SMN1 & SMN2 gene conversion allele that does not guarantee a spinal muscular atrophy (SMA) phenotype D. Zeevi
3208 Long-read sequencing and optical mapping decipher structural composition of ATXN10 repeat in kindred with spinocerebellar ataxia and Parkinson’s disease B. Schuele
3287 A new approach to Thalassemia and Ataxia carrier screening panels using CRISPR-Cas9 enrichment and long-read sequencing Y. Tsai
3305 Clinical application of long-read sequencing technology to neurodevelopmental disorder diagnosis S. Hiatt *
3448 Identifying novel structural variants at the 17q21.31 MAPT locus in progressive supranuclear palsy using targeted long-read sequencing H. Walsh
3487 Accurate, comprehensive variant calling in difficult-to-map genes using HiFi reads W. Rowell *
3494 Capture long-read isoform sequencing (Iso-Seq) for uncovering human isoform diversity in the brain and characterizing SARS-CoV2viral RNAs T. Hon
3512 Full-length transcript sequencing of human and mouse identifies widespread isoform diversity and alternative splicing in the brain A. R. Jeffries
3520 High molecular weight DNA extraction and long-read next-generation sequencing of human genomic reference standards M. Mitchell
3523 High-throughput HiFi library workflow for Human Whole Genome Sequencing on the Sequel II System S. Chakraborty
3628 Long read sequencing of the SARS-CoV-2 genome and the human immune repertoire E. Tseng *
# Title First Author Date
1062 A high-resolution panel for uncovering repeat expansions that cause ataxias Y. Tsai Febraury 28, 2022

Visit Us at Booth #210

Stop by our booth to chat with PacBio staff, get all your questions answered, and see plant and animal genomics in action!

Book a meeting to talk to a PacBio scientist over a cup of coffee. We are excited to learn about your sequencing goals and learn more about your research!

Booth hours:

  • Sunday, January 9: 3:00 p.m. – 8:30 p.m.
  • Monday, January 10: 9:30 a.m. – 5:00 p.m.
  • Tuesday, January 11: 9:30 a.m. – 3:00 p.m.

PacBio Service Providers

Interested in getting a sequencing project started? Stop by our service providers at PAG to talk about project design and next steps.

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