Optical Genome mapping for Clinical Evaluation of Genomic Complexity in Myelodysplastic Syndromes

Dr. Rashmi Kanagal-Shamanna, Director of the Molecular Diagnostic Laboratory, MD Anderson Cancer Center presents on her work comparing OGM performance on Myelodysplastic Syndromes (MDS) against standard of care methods. She has successfully completed her previously presented pilot study on 12 samples but has since expanded the study to 50 more. She summarizes that OGM with Saphyr is a single assay that detects all types of SVs, voiding the need for multiple confirmatory tests, is faster and less expensive, and has immense potential to serve as a high throughput platform for structural variant analysis.