Moving Us Forward

Presently, around 50% of genetic disease cases remain unsolved using existing Genomic methods to explore genetic variations.  Optical genome mapping (OGM) is rising as a revolutionary process for in-depth examination of structural variations throughout cancer and genetic disease samples, providing high-resolution, genome-wide insights, and more disease cases explained. During this enlightening workshop, you will learn how key experts in the field are leveraging OGM to advance the constitutional genetics field.  

Dr. Brynn Levy will present landmark results from the largest multicenter study to date comparing Bionano’s Optical Genome Mapping (OGM) to classical methods for postnatal constitutional disorders. He will present compelling data to demonstrate OGM’s ability to reveal significant incremental findings and detect pathogenic or candidate variants in previously unsolved cases, with near perfect concordance, with a single end-to-end workflow using the Bionano Saphyr®. 

Dr. Roger Stevenson will present Bionano’s Optical Genome Mapping (OGM) as an effective and efficient workflow in revealing genomic aberrations in his research on the causes of Neural Tube Defects (NTD) using the Bionano Saphyr®. He will present data demonstrating how the Bionano Saphyr® was able to identify critical genomic biomarkers previously undetected over decades of research, highlighting OGM as a transformative genomic analysis workflow. 

In this session Bionano will guide you through the world of Optical Genome Mapping (OGM) and delve into the reasons driving its increasing adoption. OGM is emerging as a transformative technique for high-resolution, genome-wide, comprehensive analysis of structural variation across research in cancer and genetic disease. This method is not only highly concordant with classical methods, but is helping unveil novel pathogenic variants for cases that have been unsolved for many years. Bionano provides an end-to-end OGM solution, including kits for sample isolation and labeling, the Saphyr® platform for optical genome mapping, and the new VIATM software for variant calling, visualization, interpretation, and reporting.

During this session, we will provide an overview of Bionano’s end-to-end OGM workflow, with highlights on the latest product developments and innovations to enhance, streamline and enable scalability.

Recent advancements in genomic technologies such as genome/exome sequencing and Optical Genome Mapping have significantly advanced our understanding of the human genome and its role in early fetal development. This session brings together clinicians and researchers from around the world with expertise in reproductive medicine, genomic technologies, and machine learning.