Enabling Next-Generation Cytogenetics with Optical Mapping - Applications in Medical Genetics

Structural variants (SVs) represent an important source of genetic variation in the human genome and are involved in a multitude of diseases, such as cancer and developmental disorders. In this presentation at the European Society of Human Genetics (ESHG) conference 2019, Dr. Alexander Hoischen, Associate Professor, Immuno-Genomics Radboud University Medical Center, discusses SV detection using optical mapping technology and the new Saphyr system from Bionano Genomics. Supported by data presented in this talk, Hoischen hypothesizes that optical mapping technology may largely replace classical cytogenetic tests in the future.