Rapid detection of chromosomal translocation and precise breakpoint characterization in acute myeloid leukemia by nanopore long-read sequencing

Detection of chromosomal translocation is clinically important for disease diagnosis, prognostication, therapeutic target identification, and monitoring of hematological malignancies. Conventional detection methods are cytogenetics, PCR and fluorescence in situ hybridization (FISH). Next-generation sequencing (NGS) is emerging as a powerful new tool in the detection of chromosomal translocations, such as massively parallel RNA sequencing to detect recurrent gene fusions in leukemia [1]. In theory, whole genome sequencing (WGS) by NGS offers an unbiased approach for the identification of rearrangements, but is hitherto considered impractical in clinical practice due to high cost and complexity.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Short Communication Source Type: research