Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes
Hui Yang, Guillermo Garcia‐Manero, Diana Marcela Rush, Guillermo Montalban Bravo, Saradhi Mallampati, Leonard Jeffrey Medeiros, Brynn Levy, Rajyalakshmi Luthra, Rashmi Kanagal‐Shamanna
This study evaluates optical genome mapping's ability to detect chromosomal variants in MDS patients, showing high concordance with standard methods and identifying additional clinically relevant aberrations.
medRxiv · Jan 13, 2021 · PreprintGenetic & Genomic Medicine