Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies
Andy Wing Chun Pang, Karena A. Kosco, Nikhil Sahajpal, Arthi Sridhar, Jen Hauenstein, Benjamin Clifford, Joey C. Estabrook, Alex Chitsazan, Trilochan Sahoo, M. Anwar Iqbal, Ravindra B Kolhe, Gordana Raca, Alex R. Hastie, Alka Chaubey
This study validates optical genome mapping (OGM) as a clinical test for detecting structural variations in hematological malignancies, showing high accuracy and sensitivity compared to standard-of-care methods.
medRxiv · Dec 27, 2022 · PreprintGenetic & Genomic Medicine