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:
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: On-demand from Monday, October 26
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
* 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 |
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.
If you want to cut the line and get one-on-one time with one of our staff, sign up for a meeting now by checking the box in the form above.
