Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
Nikhil Sahajpal, Ashis Kumar Mondal, Timothy Fee…·Ravindra B Kolhe
This study validates optical genome mapping (OGM) as a high-resolution, cost-effective alternative to traditional prenatal diagnostic methods by demonstrating its ability to detect all classes of structural variants and copy number variations with 100% concordance.