Twist Solid¶

GMS560 gene panel¶

The GMS560 gene panel is a combined gDNA target capture panel and a cDNA junction capture panel for comprehensive genomic profiling of solid tumors, designed and validated as a collaborative effort within the Genomic Medicine Sweden Solid (GMS) tumor work package. The design allows for clinical use as well as for research applications.

Twist RNA panel¶

The RNA panel is a smaller panel designed to capture fusion transcripts and specific exon skipping events (e.g., MET exon 14). It complements the DNA panel by providing RNA-level evidence for fusions and splice variants.

FFPE and ctDNA pipeline¶

The Twist Solid pipeline analyses both tumor-only FFPE and ctDNA samples and reports small variant, CNVs, fusions and biomarkers (TMB, MSI, HRD) as well as a QC report and a sample report. The RNA analysis pipeline focuses on fusion calling using multiple callers (Arriba, Star-Fusion, FusionCatcher) and exon skipping detection. The pipeline is build using the hydra-genetics framework. All new releases are run through real data sets and compared to previous versions to ensure that the expected result are generated.