Highly Sensitive Structural Variant Detection for Medical Genetics: A Comparison to Standard of Care

Radbound Medical Center
Dr. Alexander Hoischen, Associate Professor, Genomic Technologies & Immuno-genomics | September 18, 2019
 

This webinar outlines how a team at Radboud University Medical Center is assessing ultra-long read optical mapping on the Bionano Saphyr System to replace classical cytogenetics approaches in routine testing and for the discovery of novel structural variants with potential scientific, prognostic, or therapeutic value that are missed by standard approaches.