Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing
Roger E. Stevenson, J. Liu, M. Anwar Iqbal, Barbara R. DuPont, Nikhil Sahajpal, Monique Ho, J.W. Yu, Sam J. Brody, Mythily Ganapathi, Aleksandar Rajkovic, Teresa A. Smolarek, Fatih Z Boyar, Peter H Bui, Adrian M. Dubuc, Ravindra B Kolhe, Brynn Levy
The paper evaluates optical genome mapping as a prenatal diagnostic tool, showing 100% concordance with standard methods across multiple sites and operators.
medRxiv · Dec 19, 2022 · PreprintGenetic & Genomic Medicine