Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
Nikhil Sahajpal, Ashis Kumar Mondal, Timothy Fee, Benjamin Hilton, Lawrence Clarke Layman, Alex R. Hastie, Alka Chaubey, Barbara R. DuPont, 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.
Journal of Molecular Diagnostics · Feb 8, 2023Peer-reviewedGenetic & Genomic Medicine