Validation of a Targeted RNA Sequencing Assay for Kinase Fusion Detection in Solid Tumors.

ABSTRACT: Kinase gene fusions are important drivers of oncogenic transformation and can be inhibited with targeted therapies. Clinical grade diagnostics using RNA sequencing to detect gene rearrangements in solid tumors are limited, and the few that are available require prior knowledge of fusion break points. To address this, we have analytically validated a targeted RNA sequencing assay (OSU-SpARKFuse) for fusion detection that interrogates complete transcripts from 93 kinase and transcription factor genes. From a total of 74 positive and 36 negative control samples, OSU-SpARKFuse had 93.3% sensitivity and 100% specificity for fusion detection. Assessment of repeatability and reproducibility revealed 96.3% and 94.4% concordance between intrarun and interrun technical replicates, respectively. Appl

SUBMITTER: Reeser JW 

PROVIDER: S-EPMC5975628 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature