Working together to reveal more genomic variations that matter in cancer research

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 cancer researchers with better tools, expanded services, and an expert team. Let’s solve the complexities of cancer together to elevate the health and wellness of all people.

Explore Our Solutions at Booth #18.

One company working together to transform
the way the world sees the genome


Finding Community

Translating Biology to Medicine

As part of our mission to elevate the health and wellness of all people, Bionano Genomics takes the fight against cancer personally. We’re committed to playing an important role in service to the cancer research community — building better tools, asking harder questions, and working together to make genomic discoveries that can ultimately lead to better outcomes for people diagnosed with cancer.

Innovative Cancer Science

Sponsored Session
See More, Know More: Bionano Helps You Go Deeper in the Understanding of Your Complex Samples
Wednesday, 22 June
Auditorium 2 + 3
Alicia Bertolotti
Optical Genome Mapping for the Detection of Structural Variation in Complex Human Genomes
Alicia Bertolotti
Bionano Genomics

Genome variation common to cancer is too complex for low coverage whole genome sequencing. Complex rearrangements as well as highly repetitive regions of the genome present additional challenges for short and long read sequencing technologies. Optical genome mapping (OGM) detects unbiased structural variations at sensitivities much higher than sequencing-based technologies, and routinely at 5% variant allele fraction. During this technical introduction, we will go over the simple workflow, as well as presenting some examples of variants in and around genes implicated in cancer that were missed by other technologies.

Silvia Genovese
Clinical Impact of A Genomic Combined Approach in Pediatric Central Nervous System (CNS) Tumors
Silvia Genovese
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Our study had carried out on a cohort of 30 DNA samples from paediatric patients with a diagnosis of CNS tumor. A combined approach of techniques including both standard (histological criteria) and genomics analysis had performed for each sample. We have used OGM, chromosomal microarray snalysis (CMA) and RNAseq analyses to determine a comprehensive genomic profile of each DNA sample. The integration of results highlighted specific patterns of alterations, helping in defining an accurate genomic and morphologic profile for each class of CNS tumour.

Juan Díaz-Martín
Complex Rearrangement Patterns in Ewing Sarcoma Associate withPoor Clinical Outcome
Juan Díaz-Martín
Institute of Biomedicine of Sevilla (IBiS), Virgen del Rocio University Hospital /CSIC/University of Sevilla/CIBERONC, Seville, Spain

Undifferentiated small round cell sarcomas (USRCS) are highly aggressive neoplasms comprising Ewing sarcoma (ES) and other entities (“Ewing-like sarcomas”, ELS) that predominantly affect children and adolescents. Patients with relapsed ES have a poor survival rate, and new prognostic markers are needed. Little is known about the biological factors determining the risk of relapse or progression, thus precluding accurate patient stratification and risk-adapted therapeutic approaches. Our main aim in this study is the comprehensive characterization of SVs using a new cutting-edge cytogenetic method, OGM. Herein, we profiled SVs with OGM in a series of USRCS comprising 15 cases of ES (14 cases EWSR1::FLI1, 1 case EWSR1::ERG), and 3 cases of ELS (2 cases BCOR::CCNB3 and 1 EWSR1::NFATC2).

Decoding Cancer Complexity

Tools for analysis of detected genomic scars associated with homologous recombination deficiency (HRD) continue to evolve.

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)
Cancer Screen

Poster Presentation Featuring OGM

Poster Session 1 Tuesday, 21 June, 10:15 - 18:00 CEST
Poster IDTitleAuthors
P1-218Exploring the Role of Endoglin in the aggressiveness of Ewing Sarcoma and Clear Cell SarcomaA. Amaral
Institute of Biomedicine of Seville IBiS, Spain
P1-233Optical Genome Mapping: Unravelling the Genomic Landscape of Solitary Fibrous TumorC. Salguero-Aranda
Institute of Biomedicine of Seville IBiS, Spain
Poster Session 2 Wednesday, 22 June, 10:15 - 18:00 CEST
Poster IDTitleAuthors
P2-230Whole-genome optical mapping reveals a complex genetic architecture involving translocations in pheochromocytomasJ. Manakova
Palacky University Olomouc and University Hospital Olomouc, Czech Republic

Key publications in cancer research

A growing body of research demonstrates the benefits of optical genome mapping for cancer research. 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
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
The clinical utility of optical genome mapping for the assessment of genomic aberrations in acute lymphoblastic leukemia
Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias
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
Solid Tumors
Identification of somatic structural variants in solid tumors by optical genome mapping
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors
Multiplatform discovery and regulatory function analysis of structural variations in non-small cell lung carcinoma
Structure, dynamics, and impact of replication stress-induced structural variants in hepatocellular carcinoma
Hepatitis B virus integrations promote local and distant oncogenic driver alterations in hepatocellular carcinoma
The landscape of extrachromosomal circular DNA in medulloblastoma

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