Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

This study compares optical genome mapping (OGM) performed at multiple sites with current standard-of-care (SOC) methods used in clinical cytogenetics. This study included 50 negative controls and 359 samples from individuals (patients) with suspected genetic conditions referred for cytogenetic testing. OGM was performed using the Saphyr system and Bionano Access software version 1.7. Structural variants, including copy number variants, aneuploidy, and regions of homozygosity, were detected and classified according to American College of Medical Genetics and Genomics guidelines.

Source: Journal of Molecular Diagnostics - February 22, 2023 Category: Pathology Authors: M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil S. Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe Tags: Regular article Source Type: research