Optical Genome Mapping improves detection and streamlines analysis of structural variants in myeloid neoplasms.
Gordana Raca, Trilochan Sahoo, M. Anwar Iqbal, Teresa A. Smolarek, Brynn Levy, Barbara R. DuPont, Scott T. Ryall, Adrian M. Dubuc, Nikhil Sahajpal, Jie Liu, Jun Liao, Zixuan Wang, Aaron A. Stence, Natalya V. Guseva, James Riley Broach, , Rashmi Kanagal‐Shamanna
This study evaluates Optical Genome Mapping (OGM) for detecting structural variants in myeloid neoplasms, showing high concordance and identifying additional clinically relevant variants compared to standard of care methods.
medRxiv · Jan 2, 2024 · PreprintGenetic & Genomic Medicine