The Journal of molecular diagnostics : JMDHumansHematologic NeoplasmsSequence AnalysisRNARNA Splicing
Enhanced Detection of Splice-Altering Variants in Hematologic Malignancies Using Targeted RNA-Sequencing Data.
Muneeza Maqsood, John Toubia, Carol Wadham, Naranie Shanmuganathan, Nur Hezrin Shahrin, Adelina Fernandes, Joe McConnell, Verity Saunders, Dominik Kaczorowski, Rosalie R Kenyon, Ming Lin, Timothy P Hughes, Chung Hoow Kok, Susan Branford
Published: 202610.1016/j.jmoldx.2025.09.003
Abstract
RNA-based targeted sequencing aids the detection of several types of variants in hematologic and other malignancies, including splice-altering variants. However, accurately identifying clinically relevant mis-splicing events remains challenging becau…
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