Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE.

ABSTRACT:

Background

RNA is a critical analyte for unambiguous detection of actionable mutations used to guide treatment decisions in oncology. Currently available methods for gene fusion detection include molecular or antibody-based assays, which suffer from either being limited to single-gene targeting, lack of sensitivity, or long turnaround time. The sensitivity and predictive value of next generation sequencing DNA-based assays to detect fusions by sequencing intronic regions is variable, due to the extensive size of introns. The required depth of sequencing and input nucleic acid required can be prohibitive; in addition it is not certain that predicted gene fusions are actually expressed.

Results

Herein we describe a method based on pyrophosphorolysis to include detection of gen

SUBMITTER: Gray ER 

PROVIDER: S-EPMC9555097 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature