Traditional multiplex PCR (mPCR)-based targeted sequencing assays deliver high-sensitivity variant detection with a rapid workflow but are unable to capture gene fusions with novel partners or breakpoints.
This poster from Singular Genomics introduces Ring-Seq, a novel mPCR technology for the targeted detection of gene fusions compatible with traditional mPCR panels, enabling novel fusion detection with minimal panel modification.
As a proof of concept, the authors applied Ring-Seq and the Singular Genomics G4 Sequencing Platform to simultaneously detect clinically relevant translocations and marker VDJ rearrangements of the IGH locus from highly degraded material, thereby resolving a key weakness of traditional B-cell clonality assays.
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