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.

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

Live Sessions Featuring Bionano Data at ESHG 2021
(All times listed in CEST)

Sunday, August 29 – 13:15-13:30
C09.6 – Long-read technologies identify a hidden inverted duplication in a family with choroideremia
Kornelia Neveling, Radboud University Medical Centre, Netherlands

C13.6 – Germline chromothripsis of the APC locus in a patient with adenomatous polyposis
Florentine Scharf, Medical Genetics Center Munich, Germany

Monday, August 30 – 15:30-16:30
CS036 – Bionano Corporate Satellite
1. Bionano Genomics: Enlightening the dark matter of the genome
Yannick Delpu, PhD, Bionano Genomics
2. Optical Genome Mapping identifies germline retrotransposon insertion in SMARCB1 in two siblings with Atypical Teratoid Rhabdoid Tumor
Mariangela Sabatella, PhD, Princess Maxima Center for Pediatric Oncology

Tuesday, August 31
8:30-8:45
C24.1 – What is the best solution to manage failures of chromosomal structural variations detection by short-read strategy?
Caroline Schluth-Bolard, Universite Hospital de Lyon, France

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E-Poster Area
Available for Attendee Viewing beginning Saturday, August 28 – 9:00A-6:00P CEST

Track: Neuromuscular Disorders

P10.025.A / A – Bionano optical genome mapping and southern blot analysis for FSHD detection
Jeroen Depreeuw, Barbara Dewaele, Sascha Vermeer, Gert Matthijs, Valérie Race;
Ctr. for Human Genetics, Univ. Hosp. of Leuven, Leuven, Belgium.

Track: Cancer Genetics

P12.188.D / D – Efficient workflow for detection of clinically relevant abnormalities in leukemias according to NCCN guidelines.
Alex Hastie, Andy W. C. Pang, Joyce Lee, Ernest Lam, Mark Oldakowski, Alka Chaubey;
Bionano Genomics, San Diego, CA.

Track: Genome Variation and Architecture

P13.006.C / C – High throughput analysis of disease repeat expansions and contractions by optical mapping
Dong Zhang, Ernest Lam, Jian Wang, Tom Wang, Andy Pang, Henry Sadowski, Alex Hastie, Mark Oldakowski;
Bionano Genomics, San Diego, CA

Track: Cytogenetics

P14.002.C / C – 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by Bionano optical mapping and whole genome sequencing
Romain Nicolle^1,2, Karine Siquier-Pernet², Marlène Rio^2,3, Anne Guimier³, Emmanuelle Olivier⁴, Patrick Nitschke⁴, Christine Bole-Feysot⁵, Serge Romana^1,2, Alex Hastie⁶, Vincent Cantagrel², Valérie Malan^1,2

P14.023.D / D – Characterization of breakpoint regions of apparently balanced translocations by optical genome mapping
Jenny Schiller¹, Karolina Bilska¹, Uwe Heinrich¹, Eva-Maria Krimmel¹, Stephanie Demuth², Imma Rost¹;

P14.024.A / A – Optical genome mapping: a cytogenetic revolution
Valeria Orlando¹, Silvia Genovese¹, Laura Ciocca¹, Viola Alesi¹, Sara Loddo¹, Silvia Di Tommaso¹, Marina Trivisano², Maria Lisa Dentici³, Alessandro Ferretti², Antonio Novelli¹;
¹1- Lab. of Med. Genetics, Translational Cytogenomics Res. Unit, Bambino Gesù Children Hosp., Roma, Italy, ²2- Rare and Complex Epilepsy Unit, Dept. of Neuroscience, Bambino Gesù Children Hosp., Roma, Italy, ³3- Med. Genetics Unit, Academic Dept. of Pediatrics, Bambino Gesù Children Hosp., Roma, Italy.

Track: New Technologies and Approaches

P15.002.B / B – The clinical utility of optical genome mapping for the assessment of genomic aberrations in acute lymphoblastic leukemia
Jonathan L. Lühmann¹, Marie Stelter¹, Marie Wolter¹, Josephine Kater¹, Jana Lentes¹, Anke K. Bergmann¹, Max Schieck¹, Gudrun Göhring¹, Anja Möricke², Gunnar Cario², Martin Schrappe², Brigitte Schlegelberger¹, Martin Stanulla³, Doris Steinemann¹;
¹Dept. of Human Genetics, Hannover Med. Sch., Hannover, Germany, ²Dept. of Pediatrics I, ALL-BFM Study Group, Christian-Albrechts Univ. Kiel and Univ. Med. Ctr. Schleswig-Holstein, Kiel, Germany, ³Pediatric Hematology and Oncology, Hannover Med. Sch., Hannover, Germany.

P15.035.C / C – Optical Genome Mapping: where molecular techniques give up
Alesi¹, F. Lepri¹, S. Genovese¹, V. Orlando¹, S. Loddo¹, S. Di Tommaso¹, M. Luciani², F. Deodato³, R. Capolino⁴, A. Novelli¹;
¹Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, Rome, Italy, ²Haemophilia Centre, Bambino Gesù Paediatric Hospital, Rome, Italy, ³Division of Metabolism, Bambino Gesù Children’s Hospital, Rome, Italy, ⁴Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, Rome, Italy.

Track: Diagnostic Improvements and Quality Control

P16.036.C / C – Identification of structural variation in constitutional disorders by optical genome mapping
Andy Wing Chun Pang, Alex Hastie, Alka Chaubey;
Bionano Genomics, San Diego, CA.

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

Click here to view the agenda.

ASHG Poster and Presentation Guide