Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE - BMC Medical Genomics

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Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE - BMC Medical Genomics
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An article published in BMCMedGenomics presents ASPYRE: a method for the molecular detection of gene fusions for diagnostic testing of patients with non-small cell lung carcinoma.

. No changes were made to the ASPYRE workflow, with the only adaptation being the addition of a reverse transcriptase to one mastermix formulation. As a result, DNA and RNA samples can be run concurrently with no additional steps required from the user, on the same plate in the same thermal cycler and qPCR machine. The entire post-extraction workflow, from RT-PCR through to result can be completed in under a day.

A combination of multiplexed primers allows amplification of all targets in our RNA panel to be run from a single RT-PCR reaction. This panel includes all 3’ partner classes of actionable mutations listed in current NSCLC treatment guidelines for advanced/metastatic disease. Collectively, these targets represent just over 11% of reported 3’ classes of mutations found as RNA gene fusions in NSCLC [].

Table 1 A comparison of frequently used analysis methods to detect gene fusions with the ASPYRE assay ([

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