Targeted RNA-sequencing analysis for fusion transcripts detection in tumor diagnostics: assessment of bioinformatic tools reliability in FFPE samples.
Iolanda CaponeFabio BozziGian Paolo DagradaPaolo VerderioElena ConcaAdele BusicoMaria Adele TestiValentina MontiMatteo DucaClaudia ProtoSilvia DamianAlberta PiccoloFederica PerroneElena TamboriniAndrea DevecchiPaola ColliniDaniele LorenziniAndrea VingianiLuca AgnelliGiancarlo PruneriPublished in: Exploration of targeted anti-tumor therapy (2022)
Albeit ARR and SFU showed lower sensitivity, the use of additional fusion-detection tools can contribute to reinforcing or extending the output obtained by ADx, particularly in the case of low-quality input data. Overall, our results sustain the clinical use of NGS for the detection of fusion transcripts in FFPE material.