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Facioscapulohumeral muscular dystrophy (FSHD) is associated with the contraction of the D4Z4 macrosatellite in the 4q35 subtelomeric region. The most common technique for genetic diagnosis of FSHD is Southern Blotting which is tedious, difficult to interpret, and involves radioactive labelling, which limits its availability. In this webinar, molecular geneticist Jeroen Depreeuw, PhD, from Centrum Menselijke Erfelijkheid, UZ Leuven, discusses the potential of a new technique, called Optical Genome Mapping (OGM) with the Saphyr system from Bionano Genomics for FSHD detection. Based on the Leuven team’s validation study, they conclude that OGM is a powerful and robust technique for FSHD testing in genetic diagnostic laboratories, providing results that are completely concordant with the current gold standard Southern Blot analysis. Dr. Depreeuw will present details of the validation study and take questions from the audience.
Join us to discover how Optical Genome Mapping (OGM) can help you in the characterization of complex samples. OGM is a non-sequencing technique that provides a high-resolution view of intact, long DNA molecules free from the bias and errors introduced by Next-Generation Sequencing. Automatically identify all structural variants, genome-wide, starting at 500bp, including complex rearrangements and with sensitivity down to 1% allele fraction. Structural variants have nowhere to hide.
Host genome analysis of structural variations by Optical Genome Mapping in patients with severe COVID-19
Ravindra Kolhe, MD, PhD
Department of Pathology, Section of Anatomic Pathology
Vice Chairman for Translation Research
Chief, Section of Molecular and Genetic Pathology
Augusta University
The varied clinical manifestations and outcomes in patients with SARS-CoV-2 infections implicate a role of host-genetics in the predisposition to disease severity. This role is supported by evidence that is now emerging, where initial reports identify common risk factors and rare genetic variants associated with high risk for severe/life-threatening COVID-19. We investigated the host genomes of individuals with severe/life-threatening COVID-19 at the structural variant level (500 bp – Mbps) to identify events that might provide insight into the inter-individual variability in clinical course and outcomes associated with SARS-CoV-2 infections and COVID-19 mortality.
Advanced structural analysis of risk loci for congenital diaphragmatic hernia using optical genome mapping technology
Frances High, MD, PhD
Assistant in Pediatrics, MassGeneral Hospital for Children
Assistant Professor of Pediatrics, Harvard Medical School
In this webinar, Dr. Frances High will explore how she used Bionano’s Saphyr system for optical genome mapping to analyze structural variations in a large cohort of patients with CDH and their parents, and how it has led to the identification of critical genes and pathways creating improved understanding of the disorder.
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ASCO 2021 Annual Meeting
(American Society of Clinical Oncology)
Abstract Deadline – February 17, 2021 – Click Here for Details
Conference Dates – June 4-8, 2021 (Virtual Only)
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CGC 2021 Annual Meeting
(Cancer Genomics Consortium)
Abstract Deadline – March 1, 2021 – Click Here for Details
Conference Dates – August 1-4, 2021 (Hybrid – Virtual/In-Person)
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EACR 2021 Annual Meeting – June 9-12
(European Association for Cancer Research)
Abstract Deadline – March 8, 2021 – Click Here for Details
Conference Dates – June 9-12, 2021 (Virtual Only)
Bionano Showcase:
Monday, August 2, 2021 | 12:35 – 1:20 PM EDT
Ushering in a New Era for Cytogenomics Based on Optical Genome Mapping
Alka Chaubey, Bionano Genomics
Followed by a panel discussion featuring:
Ravindra Kolhe, Augusta University
Adrian Lee, University of Pittsburgh Medical Center
Alan Lennon, Pathgroup
Presentations:
Sunday, August 1, 2021:
1:25 – 2:25 PM EDT Session 1: Brain Tumors – Molecular Landscape and Emerging Targets
Optical Genome Mapping Reveals Novel Structural Variants in Pediatric High Grade Gliomas
Miriam Bornhorst, Children’s National Hospital
Monday, August 2, 2021:
10:10 – 11:10 AM EDT Session 2: New Strides in Technology
Adoption of Optical Genome Mapping in Clinical Cancer Cytogenetics Laboratory: A Stepwise Approach
Victoria Stinnett, The Johns Hopkins University
3:25 – 4:10 PM EDT Session 3: New Molecular Insights into Myeloid Hematologic Malignancies
Optical Genome Mapping for Chromosomal Structural Variants Analysis in Hematological Malignancies
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center
5:40 – 6:25 PM EDT Session 4: Integrating Genomics into Constitutional Analysis
Next-Generation Cytogenetics: Proposal for a Cost-Effective Approach for Comprehensive Testing of Prenatal Cases
Nikhil Sahajpal, Augusta University
Tuesday, August 3, 2021:
3:20 – 4:05 PM EDT Session 6: Genetic Spectrum of Vascular Anomalies and Overgrowth Syndromes
Genomic Structural Variations in Lymphatic Anomalies
Thuy Phung, University of South Alabama
5:30 – 6:15 PM EDT Session 7: Hematologic Malignancies
Complementarity of RNA Sequencing and Optical Genome Mapping in Detection of Rare Fusions in Pediatric B-ALL
Gordana Raca, Children’s Hospital Los Angeles
Wednesday, August 4, 2021:
5:30 – 6:30 PM EDT Session 11: Unraveling Solid Tumors with Genomic Technologies
Clinical Utility and Feasibility of Adopting Optical Genome Mapping for Chromosomal Characterization of Solid Tumors
Nikhil Sahajpal, Augusta University
*Second Place Technologist Abstract Award
Posters:
Integrative Cytogenomics Studies Using Optical Genome Mapping in Two Cases with Chronic Lymphocytic Leukemia
Jia-Chi Wang, City of Hope National Medical Center
On-Demand Poster Presentations:
Optical Genome Mapping and SNP Microarray: Integrated Workflow for Optimizing Analysis of Products of Conception
Nikhil Sahajpal, Augusta University
Optical Genome Mapping Reveals Genomic Complexity and Detects Novel Genetic Abnormalities in T-Lymphoblastic Leukemia
Guilin Tang, MD Anderson Cancer Center
Session: CS15 – Bionano Genomics Satellite: High throughput Genome Imaging for the detection of Structural Variation in Genetic Disease & Cancer
Type: 08. Corporate Satellites
Date & Time: Sunday, June 7, 2020 – 12:00 – 13:00 CEST
Room: Virtual Session Room 2
