Genetic & Genomic MedicinemedRxivPreprint
Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis
M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy…·Ravindra B Kolhe
This study evaluates the performance and reproducibility of optical genome mapping (OGM) across multiple sites for detecting structural variations and copy number variations in constitutional disorders, showing high concordance with standard of care methods.
6 citations