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

• DOI: 10.1016/j.jmoldx.2022.12.005
• Publication Date: 2023-02-22T08:46:29Z
• 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
• Keywords: Concordance; Replicate; Medical genetics

This study compares optical genome mapping (OGM) performed at multiple sites with current standard-of-care (SOC) methods used in clinical cytogenetics. included 50 negative controls and 359 samples from individuals (patients) suspected genetic conditions referred for cytogenetic testing. OGM was using the Saphyr system Bionano Access software version 1.7. Structural variants, including copy number aneuploidy, regions of homozygosity, were detected classified according to American College Medical Genetics Genomics guidelines. Repeated expansions FMR1 contractions facioscapulohumeral dystrophy 1 also analyzed. results compared SOC technical concordance, classification intrasite intersite reproducibility, ability provide additional, clinically relevant information. Across five testing sites, 98.8% (404/409) yielded successful data analysis interpretation. Overall, concordance detect previously reported 99.5% (399/401). The blinded variant agreement between 97.6% (364/373). Replicate 130 structural variations 100% concordant. On basis this demonstration analytic validity utility by multisite assessment, authors recommend technology as an alternative existing tests rapid detection diagnosis postnatal constitutional disorders.