fusion transcripts

Variant calling and fusion gene detection in formalin-fixed paraffin-embedded tumor tissue using RNA capture sequencing

Post-doctoral fellow Anneleen Decock presents her recent work on variant calling and fusion gene detection on FFPE tumors" abstract: “RNA sequencing is widely used to study gene expression, but less frequently to assess structural alterations such as fusion transcripts or sequence variants. In this study, we applied mRNA capture sequencing to identify such aberrations in formalin-fixed paraffin-embedded tissue of different types of solid tumors. To validate our workflow, we used the TruSight RNA Pan-Cancer Panel to analyze a first cohort of 16 positive control tumors for which the diagnostic workup demonstrated the presence of a specific single nucleotide variant (SNV), small insertion or deletion (indel), or chromosomal rearrangement.