Detection of Constitutional Structural Variants by Optical Genome Mapping

Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care methods for diagnostic testing of individuals with constitutional disorders, including neurodevelopmental impairments and congenital anomalies. Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 to October 2022).

Source: Journal of Molecular Diagnostics - January 9, 2024 Category: Pathology Authors: Ulrich Broeckel, M. Anwar Iqbal, Brynn Levy, Nikhil Sahajpal, Peter L. Nagy, Gunter Scharer, Vanessa Rodriguez, Aaron Bossler, Aaron Stence, Cindy Skinner, Steven A. Skinner, Ravindra Kolhe, Roger Stevenson Tags: Regular article Source Type: research