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|Tuesday, October 17|
|1:00 - 4:00 p.m.
|Genome Reference Consortium (GRC) & Genome in a Bottle Consortium (GIAB): Getting the Most from the Reference Assembly and Reference Materials
|Thursday, October 19|
|11:30 - 11:45 a.m.
Room 220F, Level 2,
|Platform Presentation Program #175: The MHC Diversity in Africa Resource: A Roadmap to Understanding HLA Diversity in Africa
Martin Pollard, Wellcome Trust Sanger Institute
|2:00 - 3:00 p.m.||Poster #1331: 1000 Genomes Project Data and Additional Openly Consented Data Resources Can Be Accessed Via the International Genome Sample Resource (IGSR)
Susan Fairley, European Bioinformatics Institute
Poster #1529: An Optimal Long-read Workflow for Human Genome Sequencing
Justin Lenhart, Swift Biosciences
Poster #419: Heterogeneity of Human Ribosomes Inferred from rDNA and rRNA Sequencing
Ramaiah Nagaraja, National Institutes of Health
Poster #2573: Long-read Capture Sequencing for Clinical Applications
Kim Worley, Baylor College of Medicine
|3:00 - 4:00 p.m.||Poster #422: Extending and Improving GENCODE Gene Annotation
Jane Loveland, European Bioinformatics Institute
Poster #1364: A Graph Remapping Framework for In Silico Adjudication of SNVs, Indels, and Structural Genetic Variants from Genetic Sequencing Data
Dillon Lee, University of Utah
|5:15 - 5:45 p.m.
Room 310A, Level 3,
|Platform Presentation Session #047: Accurate and Fast Detection of Complex and Nested Structural Variations Using Long-read Technologies
Fritz Sedlazeck, Baylor College of Medicine
|5:45 - 6:15 p.m.
Room 310A, Level 3,
|Platform Presentation Session #047: Long-read Sequencing Reveals a Complex Splicing Isoform and Fusion Transcript Repertoire in Human Breast Cancer
Jacques Banchereau, The Jackson Laboratory
Date and Time: Wednesday, October 18, 12:30-1:45 p.m. EDT
Location: Hilton Orlando, Orange Ballroom D, Lower Level (connected to the Orange County Convention Center)
Tyson Clark, Ph.D., Director, Applications Development, PacBio
Complex eukaryotic genomes often contain regions that are challenging for standard targeting sequencing methods because they are difficult to amplify. This includes the nearly 30 known disease-associated repeat expansions in the human genome. We have developed a novel, amplification-free technique that employs the CRISPR/Cas9 system for specific targeting of individual human genes. This method, in conjunction with SMRT Sequencing’s long reads, high consensus accuracy, and uniform coverage, allows the sequencing of complex genomic regions that cannot be investigated with other technologies. Using human genomic DNA samples and this strategy, we have successfully targeted the loci of a number of repeat expansion disorders (HTT, FMR1, ATXN10, and C9orf72). With this data, we demonstrate the ability to isolate hundreds of individual on-target molecules and accurately sequence through long repeat stretches, regardless of the extreme GC-content, followed by accurate sequencing on the PacBio RSII or Sequel System.
Aaron Wenger, Ph.D., Staff Scientist, PacBio
Most of the base pairs that differ between two human genomes are in intermediate-sized structural variants (50 bp to 5 kb), the majority of which are accurately detected only by PacBio long-read SMRT Sequencing. We will present the newest laboratory and bioinformatics protocols for structural variant detection on the PacBio Sequel System; discuss the sequence coverage required to achieve a target specificity; and present brief case studies.
All posters are on display in the Exhibit Hall, Level 1
|Friday, October 20|
|11:30 - 12:30 p.m.||Poster #759: Detecting Pathogenic Structural Variants with Long-read PacBio SMRT Sequencing
Aaron Wenger, PacBio
Poster #1533: Targeted Sequencing using a Long-read Sequencing Technology
Ian McLaughlin, PacBio
Poster #405: Revisiting the Mouse reference Genome: Single Molecule Sequencing of C57BL/6J “Eve”
Anuj Srivastava, The Jackson Laboratory
Poster #1413: Towards “Gold Standard” Sequence-resolved Structural Variants in Benchmark Human Trio Reference Samples
Justin Zook, National Institute of Standards and Technology
Poster #2559: Covering All The Bases: Case Vignettes and Diagnostic Pipelines at the Stanford Center for Undiagnosed Diseases
Annika Dries, Stanford University
|12:30 – 1:30 p.m.||Poster #2760: Isoforms and eQTLs of the Myocardial Infarction Gene PHACTR1
Valerie-Anne Codina-Fauteux, Université de Montréal
Poster #1320: Construction of Japanese Reference Genome and Japanese Reference Panel of Thousands of Individuals in Tohoku Medical Megabank Project
Masao Nagasaki, Tohoku University
Poster #1266: Comparison of Short Tandem Repeat Estimation Methods with Various Conditions
Kaname Kojima, Tohoku University
Stop by our booth and chat directly with PacBio staff who will be on-hand to answer your questions and share insights.
Wednesday, October 18: 10:00 a.m. – 5:00 p.m.
Thursday, October 19: 10:00 a.m. – 5:00 p.m.
Friday, October 20: 10:00 a.m. – 2:30 p.m.
During our expert hours at the booth, hear about new cloud-based SMRT Analysis solutions from our partners:
CRISPR/CAS9 Enrichment and Long-read WGS for Structural Variant Discovery
Date and Time: Friday, October 20, 11:45 a.m. – 12:15 p.m. EDT
Location: Laboratory CoLab Theater (#959) Exhibit Hall
Population and Clinical Genetics Studies Using Long-read SMRT Sequencing
Long-read Sequencing – for Detecting Clinically Relevant Structural Variation
Professor Han Brunner, M.D., Head of Clinical Genetics, Radboud University Medical Center
Multi-platform Discovery of Haplotype-resolved Structural Variation in Human Genomes
Charles Lee, Ph.D., FACMG, Scientific Director and Professor, The Jackson Laboratory for Genomic Medicine
|Wednesday, October 18|
|2:00 - 3:00 p.m.||Poster #1261: ART_PacBio: A Fast and Accurate Simulator for PacBio Sequencing Platforms
Weichun Huang, Environmental Protection Agency
Poster #1453: PALMER: A Novel Pre-masking Method for Detecting Mobile Element Insertions using Long-read Sequencing Technology
Weichen Zhou, University of Michigan
Poster #2281: Genomic Characterization of the Immunoglobulin Heavy Chain Variable Gene Locus in Individuals of African, Asian, and European Descent Reveals Signatures of Elevated Haplotype Diversity
Oscar Rodriquez, Icahn School of Medicine at Mount Sinai
Poster #409: Complementary Long- and Short-read Sequencing Techniques Identify Rearrangement Structures and Concurrent Single Nucleotide Variant Formation on Chromosome 17p11.2
Christine Beck, Baylor College of Medicine
Poster #1501: Comprehensive Discovery of Genomic Variation from the Integration of Multiple Sequencing and Discovering Technologies
Xuefang Zhao, Massachusetts General Hospital
|3:00 - 4:00 p.m.||Poster #1384: ALEC: Amplicon Long-read Error Correction for targeted long-read sequencing
Yao Yang, Icahn School of Medicine at Mount Sinai
Poster #1480 (Reviewer’s Choice): Targeted Enrichment Without Amplification and SMRT Sequencing of Repeat-expansion Disease Causative Genomic Regions
Tyson Clark, PacBio
Poster #1492: Development of a Dual Platform Strategy for Targeted DNA Sequencing in Genetic Screening
Cassie Schumacher, Swift Biosciences
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Expansion Sequence Variations Underlie Distinct Disease Phenotypes in Spinocerebellar Ataxia Type 10
Karen McFarland, Ph.D., Research Assistant Professor, College of Medicine, Department of Neurology, University of Florida
PacBio Applications Updates and Future Roadmap
Jonas Korlach, Ph.D., Chief Scientific Officer, PacBio