Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.
Eddy N. de Boer, Vincent Vroom, Arjen J. Scheper, Lennart F. Johansson, Laura Bosscher, Nettie Rietema, Sabrina Z. Jan, Nine V.A.M. Knoers, Birgit Sikkema‐Raddatz, Eva van den Berg, Cleo C. van Diemen
This study uses Cas9-directed long-read sequencing to validate and refine optical genome mapping findings in leukemia diagnostics, improving breakpoint resolution and clinical relevance assessment.
Scientific Reports · Apr 11, 2024Peer-reviewedGenetics