We’re on a mission to transform the way you see the genome, and we want to empower you with the tools you need to change the world. Come to booth #1549 to experience how the Saphyr® optical genome mapping system and Bionano genomic analysis software can help you see more genomic variation that matters.

Stop by the booth anytime, or schedule a dedicated time to meet with an expert during the show.

Reveal more genomic variation that matters with the Saphyr system for genome-wide structural variant analysis.
Identify more clinically-relevant variants from sequencing, array, and OGM data with our software solutions.
Access OGM analysis on your research samples or order clinical OGM testing through Bionano Laboratories.

VISIT THE BIONANO BOOTH #1549 To learn more about our solutions.

Together we can transform how you drive discovery — and how you change the world.


Invited Scientific Session
Genome Mapping Technologies – Enabling Next-generation Cytogenetics
Tuesday, October 25
4:30 – 6:00 PM
Petree D | West Building
Dr. Tuomo Mantere
University of Oulu, Finland
Laila El-Khattabi
Dr. Laila El-Khattabi
Hôpitaux de Paris – Université de Paris, France
Rashmi Kanagal-Shamanna
Dr. Rashmi Kanagal-Shamanna
MD Anderson Cancer Center, USA
Adam Smith
Dr. Adam Smith
University Health Network, Canada
Bionano Access

This session will introduce the audience to genome mapping technologies and focus on evidence-based clinical utilization of one of them, namely, optical genome mapping (OGM) — an emerging next-generation molecular and cytogenetics tool for comprehensive structural variant (SV) analysis. This session will involve four pioneers — they will share their experience on how genome mapping techniques, with a focus on OGM in particular, are beginning to revolutionize (molecular) cytogenetics. The speakers will also discuss the utilization and limitations of short and long read sequencing (srWGS and lrWGS) to detect SVs in the light of their different studies and the literature.


Alka Chaubey
Alka Chaubey, PhD, FACMG
Chief Medical Officer,
Bionano Genomics
Nikhil Sahajpal, PhD
Fellow, Greenwood Genetic Center

In this CoLab presentation, Dr. Alka Chaubey and Dr. Nikhil Sahajpal will introduce the powerful OGM technique. Dr. Sahajpal will discuss highlights from a large, multi-site clinical study leveraging OGM for postnatal genetic disorders, demonstrating high concordance with traditional cytogenetic techniques. Dr. Sahajpal will share insights from this study, reviewing the technical performance, site-to-site reproducibility, and clinical utility of OGM in detecting pathogenic structural variants. Next, Dr. Sahajpal will review cases and highlight the complementary use of OGM and next-generation sequencing to solve undiagnosed cases using novel software for analysis of OGM and NGS data at once.

Hosted CoLab Session
Multi-site Clinical Study of Optical Genome Mapping and Comprehensive Genome Analysis of SNVs and SVs Utilizing a Single Software Solution
Wednesday, October 26
10:00 – 10:30 AM
CoLab Theatre 3

Networking Social


Eat, drink, and transform with us! Tuesday night, 7-10 pm, join Bionano at the JW Marriot L.A. Live Mixing Room Lounge and Patio. While enjoying our community reception, learn more about our partnership with Ignite Worldwide, a nonprofit that introduces over 80,000 girls and non-binary youth to STEM education and career development each year. Pick up a STEMinist T-shirt, and then post a pic wearing it on social media with the hashtag #STEMinistASHG and we’ll donate $50 on your behalf to Ignite Worldwide. Together, we can make STEM education more equitable and accessible for all.

Pre-registration is required and space is limited. So, RSVP today to reserve your spot! ​​​​


Wednesday, October 26 | 3:00 PM - 4:45 PM
TimeTitleLead Author/Affiliation
PB1102Filling gaps in whole genome analysis in hematology: A chance for optical mapping and long-read NGSJ. Savara
Palacky University
PB1169Next generation SP DNA sample prep and DLS labeling readies optical genome mapping workflows for adoption at scaleH. Sadowski
Bionano Genomics
PB2245A combination of exome sequencing and optical genome mapping unveils a dual molecular diagnosis in a case with an unknown neurodevelopmental disorder.A. Acharya
Columbia University
PB2261B-allele frequency-based approach to detecting absence of heterozygosity using optical genome mapping.A. Raksi
Bionano Genomics
PB2270Clinical utility of parental testing for the reclassification of likely pathogenic and uncertain copy number and sequence variants in a pediatric neurodevelopmental disorders cohort.C. Bilancia
Bionano Laboratories
PB2334Optical genome mapping identified a likely pathogenic POLR3B variant in an undiagnosed male with ataxia, hypotonia, and cerebellar atrophy.A. Ortega
Bionano Laboratories
PB2336Optical genome mapping improves clinical interpretation of constitutional copy number gains.G. Raca
Children’s Hospital, Los Angeles
PB2346Statistical method for detection of uniparental disomy using SNP microarray or NGS technologies.M. Roytman
Bionano Genomics
PB2356Unmasking of a chromothripsis event using the integrated approach of chromosomal microarray analysis (CMA) and optical genome mapping (OGM).S. Loddo
Bambino Gesù Childrens' Hospital
PB2375Atypical Prader-Willi and Angelman syndrome deletion: Importance of parent of origin detection.N. Al-Sweel
Bionano Genomics
Thursday, October 27 | 3:00 PM - 4:45 PM
TimeTitleLead Author/Affiliation
PB1264An unprecedented level of complexity in the schizophrenia-associated 3q29 region of the human genome with unique segments that increase the risk for non-allelic homologous recombination.F. Yilmaz
The Jackson Laboratory for Genomic Medicine
PB1900Leveraging orthogonal sequencing and optical mapping technologies for the precision diagnosis of neurodevelopmental disorders in a Middle Eastern family based cohort.Z. Siddig
Sidra Medicine
PB2094Improving rare conditions diagnostic rates by standardizing practice and offering preclinical testing.E. Delot
Children’s National/George Washington University
PB2119Recurrent constitutional chromosome 5 inversion.M. Doco-Fenz
Service de génétique, REIMS, France
PB2248A multiomics approach to resolving small supernumerary marker chromosomes.C. Grochowski
Baylor College of Medicine
PB2252A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.T. Maroilley
University of Calgary
PB2333Optical genome mapping and whole genome sequencing in a case of multiple chromosomal rearrangements.J. Levy
AP-HP Paris
PB2335Optical genome mapping identifies double parental paracentric inversions as risk factor for atypical monocentric recombinant chromosomes in offspring.P. Kuentz
CHU Besancon
PB2778De novo assembled and phased human genomes from Persian Arab trios show divergent and novel sequence versus CHM13 and GRCh38, providing valuable population specific reference genomes for middle eastern region.M. Ghorbani
Weill-Cornell Medicine
PB2932Cell manufacturing genome integrity analysis by optical genome mapping.A. Pang
Bionano Genomics
PB3154Structural and copy number variant detection, filtering, annotation, and classification by optical genome mapping in constitutional disorders.B. Clifford
Bionano Genomics
Friday, October 28 | 10:30 AM - 12:00 PM
TimeTitleLead Author/Affiliation
PB414The use of optical genome mapping in genetically unsolved neurodevelopmental disordersI. Schrauwen
Columbia University

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