Nanopore Targeted Sequencing for Rapid Gene Mutations Detection in Acute Myeloid Leukemia.

ABSTRACT: Acute myeloid leukemia (AML) clinical settings cannot do without molecular testing to confirm or rule out predictive biomarkers for prognostic stratification, in order to initiate or withhold targeted therapy. Next generation sequencing offers the advantage of the simultaneous investigation of numerous genes, but these methods remain expensive and time consuming. In this context, we present a nanopore-based assay for rapid (24 h) sequencing of six genes (NPM1, FLT3, CEBPA, TP53, IDH1 and IDH2) that are recurrently mutated in AML. The study included 22 AML patients at diagnosis; all data were compared with the results of S5 sequencing, and discordant variants were validated by Sanger sequencing. Nanopore approach showed substantial advantages in ter

SUBMITTER: Cumbo C 

PROVIDER: S-EPMC6947272 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature