Rapid detection of myeloid neoplasm fusions using single-molecule long-read sequencing.

ABSTRACT: Recurrent gene fusions are common drivers of disease pathophysiology in leukemias. Identifying these structural variants helps stratify disease by risk and assists with therapy choice. Precise molecular diagnosis in low-and-middle-income countries (LMIC) is challenging given the complexity of assays, trained technical support, and the availability of reliable electricity. Current fusion detection methods require a long turnaround time (7-10 days) or advance knowledge of the genes involved in the fusions. Recent technology developments have made sequencing possible without a sophisticated molecular laboratory, potentially making molecular diagnosis accessible to remote areas and low-income settings. We describe a long-read sequencing DNA assay designed with CRISPR guides to select and enric

SUBMITTER: Sala-Torra O 

PROVIDER: S-EPMC10497132 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature