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European Society of Human Genetics

August 28 - August 31
Virtual - Online

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
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
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


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 Nicolle1,2, Karine Siquier-Pernet2, Marlène Rio2,3, Anne Guimier3, Emmanuelle Olivier4, Patrick Nitschke4, Christine Bole-Feysot5, Serge Romana1,2, Alex Hastie6, Vincent Cantagrel2, Valérie Malan1,2

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.


European Association for Cancer Research

June 9 - June 12
Abstract Submission Deadline: March 8

American Society of Clinical Oncology

June 4 - June 8
Abstract Submission Deadline: February 17

American Cytogenomics Conference

May 9 - May 12
Virtual - Online

American College of Medical Geneticists

April 13 - April 16
Virtual - Online

American Association for Cancer Research

April 10 - April 15
Virtual - Online

Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias

Dr. Gordana Raca - Children's Hospital Los Angeles
Gordana Raca, MD, PhD, FACMG


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