One Team. More Solutions.

We’re on a mission to transform the way the world sees the genome. By combining the best-in-class analysis software of BioDiscovery with the structural variant detection power of optical genome mapping, we’re equipping geneticists with efficient workflows that can help reveal more genetic variation that matters.

Let’s solve real challenges in biology and medicine together.

Explore Our Solutions in the Exhibit Hall at Booth #X5-148

One team working together to transform the way the world sees the genome.

Building Connection with the Genomics Community

Corporate Satellite Presentation
See More, Know More: How OGM Provides Answers for Rare Undiagnosed Genetic Disease
Saturday, 11 June 2022
10:00 - 11:30 CEST
ACV, Room G, Level - 2
Detlef Trost
Optical Genome Mapping as A Tool to Find More Answers in Cases of Unresolved Rare Diseases
Detlef Trost, PhD
Laboratoire CERBA
Alexander Hoischen
Optical Genome Mapping for Rare Disease Discoveries
Alexander Hoischen, PhD
Radboud UMC
Yannick Delpu
Yannick Delpu, PhD
Bionano Genomics

Neurodevelopmental disorders primarily caused by SVs may consist of 20% to 30% of CGRs, many of which have a recurrent pattern generated de novo in probands that contribute to change severity of the clinical phenotype. To investigate the genomic architecture of CGRs, parental origin and contribution to clinical variability in disease, we are studying a large cohort of patients with a copy-number gain spanning Xq28 varying from 64 kb to 16 Mb, N = 115. Whole genome sequencing including Illumina short-reads, PacBio HiFi, ONT as well as Bionano optical genome mapping have been applied to investigate probands and parental genomes. Combined pipeline analysis revealed CGRs in 32% of the cohort, a majority constituted by inverted triplications (54%) and terminal duplications (27%).


Featured Scientific Presentation
S05.2 Identification of Complex Genomic Rearrangements Structures in Disease
Claudia Carvalho,
Pacific NW Research Institute, USA
Sunday, 12 June 2022
08:30 - 10:00
Hall E2 - Concurrent Symposia S05
Featured Scientific Presentation
W12: Optical Genome Mapping Enables Next-Generation Cytogenetics
Laïla El Khattabi,
Monday, 13 June 2022
14:00 - 15:30
Hall E2 – Workshop: What's new in Cytogenomics?

In her talk “Optical genome mapping enables Next-Generation Cytogenetics“ Laïla El Khattabi will first present the major findings of her recently published study (Mantere, Neveling et al., Am J Hum Genet 2021) highlighting the performance and contribution of OGM in the characterization of structural variations (SVs) even complex ones. Then, she will show so far unpublished results from (i) a comparative study between OGM and short read genome sequencing to detect and characterize apparently balanced SVs, and (ii) the use of OGM to provide new insights into the role of balanced reciprocal translocations in defects of gametogenesis.

Kornelia Neveling

Short tandem repeat (STR) expansions are often unstable and can be associated with genetic disorders, with the size of expansions correlating with the severity and age of onset. Therefore, being able to accurately detect the total length of expansion and any somatic expansions is important. This talk will present the characterization of repeat expansions across the genome using optical genome mapping (OGM) for 60 samples with known clinically relevant repeat expansions for 4 loci.

Featured Scientific Presentation
C27.3: Optical Genome Mapping for Repeat Expansion Disorder Testing
Kornelia Neveling,
Radboud UMC
Tuesday, 14 June 2022
11:00 - 12:30
Hall E2 – Concurrent Sessions C27

Poster Presentations Featuring OGM

Poster Session 12 June 2022 13:00-14:00 CEST
Poster IDTitleAuthors
Structural and copy number variant detection, filtering, annotation, and classification by optical genome mapping in constitutional disordersYannick Delpu
Bionano Genomics
P11.010.AFSHD analysis pipeline by Bionano optical genome mapping: A field reportUwe Heinrich
MVZ Martinsried
P13.107.AAn insertion in the MSH2 gene detected by Bionano optical mapping and confirmed by Nanopore sequencing in a family with suspected Lynch SyndromeRagnhild Margethe Aaløkken
Oslo University hospital Ullevål
Poster Session 13 June 2022 12:45-13:45 CEST
Poster IDTitleAuthors
Optical genome mapping analysis of FMR1 expansions in fragile X syndrome and multi-site validationAlessio Venier
Bionano Genomics
Poster Session 13 June 2022 15:45-16:45 CEST
Poster IDTitleAuthors
Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinementDana Jaber
Bionano Genomics
P16.020.DOptical genome mapping in routine human genetic diagnostics: Lessons learnedPaul Dremsek
IMG Vienna
P16.032.DOptical Genome Mapping as a diagnostic tool in cases of unresolved rare diseasesDetlef Trost
Laboratoires CERBA
Poster IDTitleAuthors
EP15.018A paracentric inversion that disrupts the SHANK2 gene resolved using cytogenomicsJolien Huyghebaert
Univ. Antwerpen
EP15.002Recurrent constitutional chromosome five inversion revisitedMartine Doco-Fenzy
Service de génétique, génétique Reims

Key Publications in Genomics

A growing body of research demonstrates the benefits of optical genome mapping in constitutional disease and cancer. Check out some of the most recent publications from leading experts across the globe.
Optimizing the Diagnostic Workflow for Acute Lymphoblastic Leukemia by Optical Genome Mapping
Optical Genome Mapping Reveals Additional Prognostic Information Compared to Conventional Cytogenetics in AML/MDS Patients
Next-generation Cytogenetics: Comprehensive Assessment of 52 Hematological Malignancy Genomes by Optical Genome Mapping
Application of Optical Genome Mapping for Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes
A National Multicenter Evaluation of the Clinical Utility of Optical Genome Mapping for Assessment of Genomic Aberrations in Acute Myeloid Leukemia
Clinical Utility of Combined Optical Genome Mapping and 523-gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers
Constitutional Diseases
Application of Full-genome Analysis to Diagnose Rare Monogenic Disorders
Optical Genome Mapping Enables Constitutional Chromosomal Aberration Detection
Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis
Optical Genome Mapping Improves Genetic Diagnosis in Chronic Granulomatous Diseases
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
16p13.11p11.2 Triplication Syndrome: A New Recognizable Genomic Disorder Characterized by Optical Genome Mapping and Whole Genome Sequencing
Constitutional Chromothripsis of the APC Locus as a Cause of Genetic Predisposition to Colon Cancer

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