ASHG 2020 - Unlock Your Next Great Discovery

ASHG 2020
Unlock Your Next Great Discovery

Sequencing Evolved — Highly Accurate Long Reads for Human Genetics

Are you ready to unlock your next great discovery with highly accurate long-read sequencing?

In this online workshop, which is available to watch now on-demand, PacBio Chief Scientific Officer Jonas Korlach introduces the new Sequel IIe System as well as our latest applications using highly accurate long reads (HiFi reads), including human WGS for variant detection, de novo genome assembly, single-cell RNA sequencing, and targeted sequencing using PCR and No-Amp methods.

We are also be joined by Emily Farrow (Children’s Mercy, Kansas City)—who shares her experience using long-read sequencing to identify novel genetic variations as part of the Genomic Answers for Kids study—and Hagen Tilgner (Cornell University)—who discusses his pioneering work around single-cell isoform analysis in the nervous system.

Watch this workshop to learn about:

  • The new PacBio Sequel IIe System
  • The latest applications of highly accurate long-read sequencing in human genetics

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Speakers

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 CoLab Theater Talk

Date and Time: On-demand from Monday, October 26

PacBio HiFi Reads for Comprehensive Characterization of Genomes and Single-Cell Isoform Expression

Highly accurate long reads (HiFi reads) provide comprehensive variant detection for both genomes and transcriptomes. New improvements in protocols and analysis methods have increased scalability and accuracy of variant calling. As demonstrated in the precisionFDA Truth Challenge V2, HiFi reads (>99% accurate, 15 kb - 20 kb) now outperform short reads for single nucleotide and structural variant calling and match for small indels. This includes calling >30,000 small variants and >10,000 structural variants missed by short reads, many in medically relevant genes.

For Single-Cell RNA sequencing, HiFi reads allow for precise detection of UMIs and single cell barcodes while still providing full-length transcript isoform information. Any single cell platform that produces full-length cDNA can be sequenced on the PacBio Systems, with the Sequel II System generating up to 3 million full-length reads per SMRT Cell 8M, sufficient to characterize ~3,000 single cells.

Elizabeth Tseng, Ph.D.

Principal Scientist, PacBio

Aaron Wenger, Ph.D.

Principal Scientist, PacBio


Presentations & Posters

* Reviewer's Choice Recipient

# Title First Author
2046 Automated repeat characterization of filaggrin from PacBio Sequel HiFi long reads A. Hawes
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
1033 Targeting clinically significant “dark” regions of the human genome with high accuracy long-read sequencing C. Heiner
1053 A large, human-specific tandem repeat in WDR7 is associated with ALS and illuminates mechanisms of repeat expansion M. M. Course
1135 Integrating single-cell genotype and transcriptome reveals the contribution of somatic mutations to brain pathology T. Bedrosian
1201 Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies polymorphic GGAA microsatellite associated with EWSR1-FLI1 fusion binding O. W. Lee
1251 The impact of structural variants on gene expression and proteome in human brains R. A. Vialle
1398 Striking patterns emerging from long-read sequence analysis of tandem repeats P. N. Valmanis

Visit us at our Booth

Attending ASHG? Stop by our booth and chat directly with PacBio staff who will be on-hand to answer your questions. At the booth, interact with and download the many resources we will have available for you.

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