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Bionano GenomicsUser PresentationsSee Structural Variation Like Never Before with Bionano Saphyr® Genome Imaging
ASHG 2019
ASHG 2019
The Saphyr® System by Bionano Genomics
is a whole genome imaging tool for high-
speed, high-throughput structural variant
detection and analysis with exceptional
sensitivity and specificity.
POSTER SESSIONWednesday, October 16, 2019
Time PgmNr Title Author Institution
2:00 PM – 3:00 PM
1389/W Optical Mapping of the Schizophrenia-associated 3q29 Deletion Reveals New Features of Genomic Architecture
Trenell Mosley Emory University
2:00 PM – 3:00 PM
2535/W High Throughput Analysis of Tandem Repeat Contraction Associated with Facioscapulohumeral Muscular Dystrophy (FSHD) by Optical Mapping
Jian Wang Bionano Genomics
2:00 PM – 3:00 PM
2547/W Full Genome Analysis for Identification of Single Nucleotide and Structural Variants in Genes that Cause Developmental Delay
Hsiao-Jung Kao Academia SINICA
2:00 PM – 3:00 PM
1695/W A Robust Benchmark for Germline Structural Variant Detection
Justin Zook National Institute of Standards and Technology
2:00 PM – 3:00 PM
2529/W De Novo Genome Assembly and Phasing for Undiagnosed Conditions
Joseph Shieh University of California San Francisco
Genome Imaging with Bionano Saphyr: Resolving Structural Variants Across the Whole Genome to Power Your Next Discovery in Human Genetics.
Date: Thursday, October 17, 2019
Time: 12:45 PM – 2:00 PM
Location: Marriott Marquis, Houston, River Oaks A,B,C Level 3
Boxed lunches will be served.
BIONANO GENOMICS EXHIBITOR EDUCATION EVENT
Alka Chaubey, PhD, FACMGPerkin Elmer GenomicsHigh Resolution View of D4Z4 Repeat Regions for Studying FSHD Using Whole Genome Optical Mapping
Frances High, MD, PhDMass General Hospital for ChildrenAdvanced Structural Analysis of Risk Loci for Congenital Diaphragmatic Hernia Using Optical Genome Mapping Technology
Mark Ebbert, PhDMayo ClinicBionano Genomics’ Saphyr Resolves Complex Genomic Haplotypes Implicated in ALS/FTD, Parkinson’s, and Alzheimer’s Disease
SPEAKERS:
1
2
Friday, October 18, 2019
Time PgmNr Title Author Institution
2:00 PM – 3:00 PM
2569/T Detection, Characterization, and Breakpoint Refinement of Balanced Rearrangements by Optical Mapping in Clinical Cases
Alex Hastie Bionano Genomics + LabCorp
2:00 PM – 3:00 PM
2533/T Genetic/epigenetic Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) via Optical Mapping
Yi-Wen Chen Children’s National Medical Center
3:00 PM – 4:00 PM
1060/T Comprehensive Analysis of Structural Variants in Clinical Cancer Samples
Ernest Lam Bionano Genomics
3:00 PM – 4:00 PM
2434/T Next-generation Cytogenetics: High-resolution Optical Mapping to Replace FISH, karyotyping and CNV-microarrays
Tuomo Mantere Radboud UMC
3:00 PM – 4:00 PM
2578/T Advanced Structural Analysis of CDH Risk Loci with Optical Genome Mapping Technology
Mauro Longoni Massachusetts General Hospital
3:00 PM – 4:00 PM
2254/T Structural Variants Associated with GWAS SNPs Provide Mechanistic Explanation of Phenotypic Associations
Seth Berger Children’s National Medical Center
Time PgmNr Title Author Institution
1:00 PM – 2:00 PM
1703/F The Complete Linear Assembly and Methylation Map of Human Chromosome 8
Glennis Logsdon University of Washington
1:00 PM – 2:00 PM
1769/F High Throughput High Molecular Weight DNA Extraction from Human Tissues for Long-read Sequencing
Kelvin Liu Circulomics
1:00 PM – 2:00 PM
2447/F Optical Mapping for Chromosomal Abnormalities: A Pilot Feasibility Study for Clinical Use
Gokce Toruner UT MD Anderson Cancer Center
Time PgmNr Title Author Institution
3:00 PM – 4:00 PM
2598/W Bionano Prep SP Isolates High Quality Ultra-high Molecular Weight (UHMW) Genomic DNA to Improve Research of Cancer and Undiagnosed disorders
Henry Sadowski Bionano Genomics
3:00 PM – 4:00 PM
1506/W nanotatoR: An Annotation Tool for Genomic Structural Variants
Surajit Bhattacharya Children’s National Medical Center
POSTER SESSION (Cont.)Wednesday, October 16, 2019
Thursday, October 17, 2019
ASHG 2019
ASHG 2019
POSTER SESSION (Cont.) Friday, October 18, 2019
PLATFORM PRESENTATION Wednesday, October 16, 2019
Saturday, October 19, 2019
Time PgmNr Title Author Institution Location
5:15 PM – 5:30 PM
80 Integration of Optical Genome Mapping and Sequencing Technologies for Identification of Structural Variants in Disorders/Differences of Sex Development (DSD)
Eric Vilain
Children’s National Medical Center
Room 361D Level 3 Convention Center
Time PgmNr Title Author Institution Location
10:15 AM – 10:30 AM
323 Integrated Analysis of NGS and Optical Mapping Resolves the Complex Structure of Highly Rearranged Focal Amplifications in Cancer
Jens Luebeck
UC San Diego Grand Ballroom A Level 3 Convention Center
For Research Use Only. Not for use in diagnostic procedures. Bionano Genomics®, Saphyr®, Saphyr Chip®, Bionano Access®, Irys®, IrysView®, IrysChip®, and IrysSolve® are trademarks of Bionano Genomics Inc. All other trademarks are the sole property of their respective owners. © 2019 Bionano Genomics, Inc.
See what Saphyr can do for you? Contact us at [email protected]. For more information about Saphyr, please visit www.bionanogenomics.com
SEE STRUCTURAL VARIATION LIKE NEVER BEFORE WITH BIONANO SAPHYR® GENOME IMAGING
Unparalleled Structural Variation DetectionGenome-wide detection of SVs >500 bp to chromosome-arm length at up to 99% sensitivity and <2% false positive rate. All major types of large structural variants can be detected even at allele fractions as low as 5%
Powerful Complement to SequencingDiscover novel disease-associated SVs missed by NGS and long-read sequencers
Comprehensive WorkflowRobust and streamlined assay, automated for a short turnaround time as little as 4 days
Confident Answers High concordance to SVs reported by FISH, karyotyping and chromosomal microarrays
Time PgmNr Title Author Institution
2:00 PM – 3:00 PM
1760/F Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical Mapping
Andy Pang Bionano Genomics
2:00 PM – 3:00 PM
1814/F ‘Dark’ and ‘Camouflaged’ Genes May Harbor Disease-relevant Variants that Long-read Sequencing Can Resolve
Mark Ebbert Mayo Clinic
2:00 PM – 3:00 PM
1838/F Bionano Genomics “Sample to Answer” Workflow for Single Molecule Analysis of Variation in Genome Structure
Sven Bocklandt Bionano Genomics
2:00 PM – 3:00 PM
2342/F Draft Assembly of an Armenian Genome Hayk Barseghyan Children’s National Medical Center
