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 cytogeneticists with efficient, consolidated workflows that can help reveal more genetic variation that matters.

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

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Bionano is one team working together to transform
the way the world sees the genome.

Building Connection with the Cytogenomics Community

Optical Genome Mapping Scientific Session

Monday, May 16, 2022 Santee Ballroom E-H
Time Title Authors
10:30 - 10:45 amComparative Benchmarking of Optical Genome Mapping to Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement

Andy Wing Chun Pang, Hayk Barseghyan, Alka Chaubey, Alex Hastie

10:45 - 11:00 amOptical Genome Mapping as a Potential Tier1 Test for Postnatal Chromosomal Disorders – Results of Multi-Institutional Validation Study of 331 Retrospective Clinical Samples

M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe

11:00-11:15 amOptical Genome Mapping for Prenatal Diagnostic Testing

Nikhil Sahajpal, Ashis K Mondal, Timothy Fee, Alex Hastie, Alka Chaubey, Barbara R DuPont, Ravindra Kolhe

11:15-11:30 amOptical Genome Mapping Analysis of FMR1 Expansions in Fragile X Syndrome

Hayk Barseghyan, Martin Muggli, Bahar Ramandi, Neil Miller, Dong Zhang, Ernest T Lam, Jian Wang, Tom Wang, Joyce Lee, Andy WC Pang, Henry B Sadowski, Alex R Hastie, Mark Oldakowski

11:30-11:45 amOptical Genome Mapping Workflow for Identification and Annotation of Variants in Hematological Malignancy

Benjamin Clifford, Jen Hauenstain, Andy Wing Chun Pang, Alka Chaubey, Alex R. Hastie

11:45 am – 12:00 pmCapture-Based Transcriptome Sequencing (RNA-Seq) and Optical Genome Mapping (OGM) Enhance Detection of Newly Described Molecular Subtypes of Pediatric B-lymphoblastic Leukemia (B-ALL)

Gordana Raca, Alexandra E. Kovach, Andrew Doan, Dejerianne Ostrow, Venkata Yellapantula, Jianling Ji, Ryan Schmidt, Jaclyn A. Biegel, Deepa Bhojwani

Vendor Presentation
Find More Answers: Integrating NGS and OGM for a Comprehensive Analysis of the Genome
Alex Hastie, PhD
Monday, May 16, 2022
12:00 - 12:30 PM
Santee Ballroom E-H
Alex Hastie
Learn More
In this session, to round out the series of OGM featured talks, Dr. Alex Hastie will share multiple examples from recent research where optical genome mapping (OGM) complemented sequencing methods to provide clearer answers for genetic disease and cancer.
Alex Hastie, PhD
VP, Clinical Affairs at Bionano Genomics
Decoding Cancer Complexity

Tools for analysis of detected genomic scars associated with homologous recombination deficiency (HRD) continue to evolve. Don’t miss Dr. Soheil Shams’ scientific presentation detailing the development of new genomic scar analysis.

The latest NxClinical software 6.2 release adds three measures of genomic instability for homologous recombination repair deficiency (HRD) in solid tumors:

  • Loss of Heterozygosity (LOH)
  • Telomeric Allelic Imbalance (TAI)
  • Large-Scale State Transitions (LST)

Soheil Shams, PhD
Chief Informatics Officer, Bionano Genomics
HRD Presentation

Analytical Tools to Support Detection of Homologous Recombination Deficiency (HRD) Using
Cytogenomic Scar Markers

Soheil Shams, PhD
Monday, May 16, 2022
8:30 - 8:45 AM
Santee Ballroom E-H
HRD Scan
Partner Presentation

GDA-Cyto: Infinium Arrays Propel Cytogenomics Laboratories to New Heights

Daniel Saul and Jackie Hagan
Monday, May 16, 2022
12:30 - 1:45 PM
Santee Ballroom E-H
Learn More

Collaboration is the driver behind the new Illumina InfiniumTM Global Diversity Array with Cytogenetics Content (GDA-Cyto) coupled with Bionano’s NxClinical analysis software. The GDA-Cyto offers genome-wide coverage at exon resolution across high-value clinical regions enabling laboratories to review cases faster and remain more economical than current workflows. Learn more about this new array platform and software offering during this co-presented ACC exhibitor spotlight.

Daniel Saul and Jackie Hagan
Daniel Saul, Technical Sales Director, Bionano Genomics Jackie Hagan, Product Manager, Human Genotyping Arrays, Illumina

Key Publications in Cytogenomics

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.
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
Optical Genome Mapping Reveals Additional Prognostic Information Compared to Conventional Cytogenetics in AML/MDS Patients
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

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